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1.	Abdulridha-Aboud, Wissam, et al. (författare) Characterization of macular structure and function in two swedish families with genetically identified autosomal dominant retinitis pigmentosa 2016 Ingår i: Molecular Vision. - 1090-0535. ; 22, s. 362-373 Tidskriftsartikel (refereegranskat)abstract Purpose: To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function. Methods: Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP. Results: The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features characteristic of RP, with severely reduced retinal rod and cone function. The degree of deterioration correlated well with increasing age. The mfERG showed only centrally preserved macular function that correlated well with retinal thinning on OCT. The family with a mutation in the RHO (p.R135W) gene had an extreme intrafamilial variability of the phenotype, with more severe disease in the younger generations. OCT showed pathology, but the degree of morphological changes was not correlated with age or with the mfERG results. The mother, with a de novo mutation in the RHO (p.R135W) gene, had a normal ffERG, and her retinal degeneration was detected merely with the reduced mfERG. Conclusions: These two families demonstrate the extreme inter-and intrafamilial variability in the clinical phenotype of adRP. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene. Our results indicate that methods for assessment of the central retinal structure and function may improve the detection and characterization of the RP phenotype.
2.	Andréasson, Sten, et al. (författare) Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes 2003 Ingår i: Ophthalmic Genetics. - : Swets & Zeitlinger Publishers. - 1381-6810 .- 1744-5094. ; 24:4, s. 215-223 Tidskriftsartikel (refereegranskat)abstract Purpose: To describe new disease-causing RP2 and RPGR-ORF15 mutations and their corresponding clinical phenotypes in Swedish families with X-linked retinitis pigmentosa (XLRP) and to establish genotype-phenotype correlations by studying the clinical spectrum of disease in families with a known molecular defect. Methods: Seventeen unrelated families with RP and an apparent X-linked pattern of disease inheritance were identified from the Swedish RP registry and screened for mutations in the RP2 and RPGR (for the RP3 disease) genes. These families had been previously screened for the RPGR exons 1-19, and disease-causing mutations were identified in four of them. In the remaining 13 families, we sequenced the RP2 gene and the newly discovered RPGR-ORF exon. Detailed clinical evaluations were then obtained from individuals in the three families with identified mutations. Results: Mutations in RP2 and RPGR-ORF15 were identified in three of the 13 families. Clinical evaluations of affected males and carrier females demonstrated varying degrees of retinal dysfunction and visual handicap, with early onset and severe disease in the families with mutations in the ORF15 exon of the RPGR gene. Conclusions: A total of seven mutations in the RP2 and RPGR genes have been discovered so far in Swedish XLRP families. All affected individuals express a severe form of retinal degeneration with visual handicap early in life, although the degree of retinal dysfunction varies both in hemizygous male patients and in heterozygous carrier females. Retinal disease phenotypes in patients with mutations in the RPGR-ORF15 were more severe than in patients with mutations in RP2 or other regions of the RPGR.
3.	Andréasson, Sten, et al. (författare) Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene 1997 Ingår i: American Journal of Ophthalmology. - 1879-1891. ; 124:1, s. 95-102 Tidskriftsartikel (refereegranskat)abstract PURPOSE: To assess the clinical phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. METHODS: Three families from different parts of Sweden, including nine patients with retinitis pigmentosa and six female carriers of X-linked retinitis pigmentosa, were examined clinically. Ophthalmologic examination included kinetic perimetry with a Goldmann perimeter using standardized objects I4e and V4e, dark adaptation final thresholds with a Goldmann-Weeker adaptometer, and full-field electroretinograms. RESULTS: The clinical findings in the patients demonstrated a severe form of retinitis pigmentosa with visual handicap early in life. Patients with a microdeletion of exons 8 through 10 of the RPGR gene had a more severe phenotype compared to the patients with single base-pair mutations in the introns 10 and 13 of the RPGR gene, resulting in splicing defects. Furthermore, heterozygous carriers in these families displayed a wide spectrum of clinical features, from minor symptoms to severe visual disability. CONCLUSION: These three families show a variable clinical phenotype resulting from different mutations in the RPGR gene. A microdeletion spanning at least parts of exons 8 through 10 seems to result in a severe phenotype compared to the splice defects. Heterozygous carriers of X-linked retinitis pigmentosa with these specific RPGR genotypes also show a variability of the phenotype; carriers with the microdeletion may be severely visually handicapped.
4.	Cardiakidis Myers, Anna, et al. (författare) Intravitreal Injection of Triamcinolone Acetonide into Healthy Rabbit Eyes Alters Retinal Function and Morphology 2013 Ingår i: Current Eye Research. - : Informa UK Limited. - 0271-3683 .- 1460-2202. ; 38:6, s. 649-661 Tidskriftsartikel (refereegranskat)abstract Aim: To study the effects of intravitreally injected triamcinolone acetonide (TA) and/or its preservative benzyl alcohol (BA) in healthy rabbit retina. Methods: Forty-eight rabbits (aged 4 months, body weight approximate to 3 kg) were randomized into four groups (n=12). They were examined with electroretinography (ERG) prior to drug exposure, and then injected intravitreally with a combination of TA and BA, TA without BA, BA alone or a balanced saline solution (BSS). The electroretinograms were assessed 1 week and 7 weeks post-injection. The rabbits were euthanized and the sectioned retinas were studied. Immunohistochemical analysis was performed on rods, cones, rod bipolar cells, horizontal cells, amacrine cells and Muller cells. Results: Rabbits injected with BA showed a significantly lower rod-mediated b-wave amplitude than the controls 1 week after injection. TA-injected rabbits demonstrated significantly higher a- and b-wave amplitudes in the total retinal response than the controls 1 week post-injection. The rabbits injected with TA+BA demonstrated a significantly higher b-wave amplitude in the total retinal response than the controls 1 week after injection. The significantly higher a-wave amplitude in the total retinal response remained in the TA-injected rabbits 7 weeks after injection. Immunohistochemistry revealed that protein kinase C alpha (PKC alpha) was down-regulated in both the perikarya and the axons of bipolar cells in histological sections from rabbit retina injected with TA+BA, BA and TA. Conclusions: Intravitreal injection of the preservative BA reduces the isolated rod-mediated retinal response in the rabbit, transiently and selectively. Intravitreal injection of TA increases the total retinal response in the rabbit up to seven weeks after injection. The effects observed are not only limited to retinal function, but also include changes in the expression of PKC alpha in rod bipolar cells, indicating drug-related interference with normal retinal physiology in the healthy rabbit eye.
5.	Cardiakidis Myers, Anna, et al. (författare) Retinal function and morphology in rabbit after intravitreal injection of VEGF inhibitors. 2012 Ingår i: Current Eye Research. - : Informa UK Limited. - 0271-3683 .- 1460-2202. ; 37:5, s. 399-407 Tidskriftsartikel (refereegranskat)abstract Purpose/Aim: To explore changes in morphology and function in the rabbit retina after intravitreal high-dose injection of three commonly used VEGF inhibitors. Materials and methods: Forty-eight rabbits of mixed strain (6 months of age, body weight ≈ 3 kg) were randomized into four groups (n = 12). They were examined with full-field electroretinography (ERG) and with multifocal electroretinography (mf ERG) prior to drug exposure. The rabbits were then injected intravitreally with bevacizumab, ranibizumab, pegaptanib, or with a balanced saline solution. The dose of VEGF inhibitor was chosen to achieve a vitreous concentration approximately three times higher than the one clinically used in the adult human eye. ERG was then performed 8 weeks postinjection, and mf ERG 9 weeks postinjection. After 9 weeks, the rabbits were sacrificed and the sectioned retina was studied. Immunohistochemical analysis was performed of rods, cones, rod bipolar cells, horizontal cells, and amacrine cells. Results: Rabbits injected with VEGF inhibitors all showed significantly lower amplitude of the dark-adapted b-wave rod-mediated response to dim light, compared to the rabbits injected with BSS. The a wave (reflecting photoreceptor function) in the response to single flash white light was however not affected. Immunohistochemistry revealed a significant reduction in PKC labeling of rod bipolar cells in pegaptanib and ranibizumab injected eyes whereas bevacizumab injected eyes displayed normal PKC labeling. No apparent morphological change was seen with markers for remaining retinal cells. Conclusions: Our results indicate that the use of high-dose intravitreal VEGF inhibitors in the rabbit eye affects rod-mediated retinal function and PKC expression in rod bipolars cells for at least 9 weeks after drug administration. The three VEGF inhibitors influence the retina slightly differently. These results are important for the understanding of drug action and when devising therapeutical strategies in new areas such as retinopathy of prematurity where vitreous volume is significantly lower compared to the adult eye.
6.	Cardiakidis Myers, Anna, et al. (författare) Retinal Function and Morphology in the Rabbit Eye after Intravitreal Injection of the TNF Alpha Inhibitor Adalimumab. 2014 Ingår i: Current Eye Research. - : Informa UK Limited. - 0271-3683 .- 1460-2202. ; 39:11, s. 1106-1116 Tidskriftsartikel (refereegranskat)abstract Abstract Aim: To study the effects of the tumor necrosis factor alpha inhibitor adalimumab on rabbit retina after injection into the vitreous body. Methods: Forty-eight rabbits of mixed strain (9-12 months old, weighing ≈ 3.5 kg) were randomized into four groups. Adalimumab was injected at one of two concentrations (1.25 mg or 2.5 mg) into the eyes of two groups, and balanced salt solution into the eyes of the third group. The fourth group acted as controls. Full-field electroretinography (ffERG) was performed before injection and 1 and 6 weeks post-injection. At 6 weeks post-injection the rabbits were euthanized and the sectioned retinas were studied. Retinal histology was studied with hematoxylin-eosin staining. Immunohistochemical analysis was performed on rods, cones, rod bipolar cells, horizontal cells, amacrine cells and Müller cells. Results: No significant difference in ffERG amplitudes or implicit times was observed between the four groups at any time point. Histological and immunohistochemical findings were similar in all groups. Conclusions: Injection of adalimumab into the vitreous body of healthy rabbits, at doses up to 2.5 mg, does not appear to be toxic to the rabbit retina.
7.	Cardiakidis Myers, Anna, et al. (författare) Rifabutin accumulates in the lens and reduces retinal function in the rabbit eye 2009 Ingår i: Retina. - 0275-004X. ; 29:1, s. 106-111 Tidskriftsartikel (refereegranskat)abstract PURPOSE: To study the toxicology of rifabutin in the rabbit eye with emphasis on retinal function and histopathology.METHODS: Seven rabbits received a daily dose of rifabutin during 15 months. Six rabbits receiving only the vehicle were used as controls. Repeated standardized full-field electroretinograms (ERG) were assessed. After discontinuing treatment, the rabbits were killed and the cornea, the lens, and the sectioned retina was studied. Immunhistochemistry directed against vimentin, glial fibrillaryacidic protein (GFAP), protein kinase C (PKC), and peanut agglutinin (PNA) was performed.RESULTS: Rifabutin was detected in serum of the treated rabbits. During treatment, the full-field ERG demonstrated significantly reduced b-wave amplitudes in the total rod-cone response as well as in the isolated rod and cone response compared with the recordings before treatment. The control rabbits did not demonstrate a reduction of the ERG amplitudes. The treated rabbits developed a discoloration of the lens, not seen in the control group. No retinal pathology was demonstrated using immunohistochemical methods.CONCLUSION: Rifabutin causes a discoloration of the lens and reduces both rod and cone function in rabbits, but does not alter retinal morphology. Previous reports on ocular side effects caused by rifabutin are supported by the results of this study.
8.	Eksandh, Louise, et al. (författare) Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. 2000 Ingår i: Ophthalmic genetics. - 1381-6810. ; 21:2, s. 69-77 Tidskriftsartikel (refereegranskat)abstract PURPOSE: To investigate, using full-field ERG, the retinal function in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN(3) gene. METHODS: Batten disease status of five patients was confirmed by the presence of vacuolated lymphocytes in peripheral blood and the identification of mutations in the Batten disease gene (CLN(3)). Visual acuity, fundus appearance, and full-field ERG were examined in all patients (age 4-19 years). The examination was repeated in one patient after 16 months. RESULTS: Three unrelated patients were homozygous for the most common mutation in CLN(3), the 1.02 kb deletion; two patients (sisters) were heterozygous for the 1.02 kb deletion and an as yet unidentified mutation in the CLN(3) gene. Full-field ERG recordings in all five patients demonstrated no rod responses and only small remaining cone responses, which could be detected with 30 Hz-flicker stimulation. Re-examination of a six-year-old girl after 16 months revealed a fast progression of the retinal degeneration. CONCLUSION: Full-field ERG recordings in Batten disease patients, both homozygous and heterozygous for the 1.02 kb deletion in the CLN( 3) gene, confirm retinal degeneration to be severe, widespread, and with a rapid progression early in the disease course. The onset of visual failure may be delayed when compared to the classic disease course, particularly in patients who are not homozygous for the most common CLN(3) mutation, a 1.02 kb deletion. In that case, the disease progression in terms of other symptoms may also be further delayed.
9.	Ekström, Ulf, et al. (författare) A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration 1998 Ingår i: Ophthalmic Genetics. - : Swets & Zeitlinger Publishers. - 1744-5094 .- 1381-6810. ; 19:3, s. 149-156 Tidskriftsartikel (refereegranskat)abstract PURPOSE: To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven patients with autosomal dominant retinitis pigmentosa and three healthy family members. Denaturing gradient gel electrophoresis (DGGE) was used for mutation screening in seven patients and six healthy members of the family. RESULTS: Three of four siblings from the middle generation and four of the younger generation were heterozygous for the peripherin /RDS Arg-172-Trp mutation. The mutation segregated with the disease. Visual acuity decreased progressively with age and visual fields were moderately constricted in young patients, while central scotoma and constriction of the fields were detected in the family members above 50 years of age. The results from full-field electrography were comparable with a widespread retinal degeneration. CONCLUSIONS: Earlier, the peripherin/RDS Arg-172-Trp mutation was associated primarily with a macular degeneration phenotype. One previous study indicated that this mutation also can give rise to a degeneration of the more peripheral parts of the retina. In the present study, a widespread retinal degeneration is seen in the patients above 50 years of age, carrying the Arg-172-Trp mutation.
10.	Ekström, Ulf, et al. (författare) Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system 1998 Ingår i: Molecular Pathology. - 1366-8714. ; 51:5, s. 287-291 Tidskriftsartikel (refereegranskat)abstract AIMS: To develop a sensitive mutation screening procedure suitable for routine analysis of the peripherin/RDS gene, and to estimate the nature and prevalence of peripherin/RDS gene mutations in Swedish patients with autosomal dominant retinitis pigmentosa. METHODS: To make the method as sensitive as possible, as many as eight segments, covering the three exons and the flanking intron sequences of the peripherin/RDS gene, were analysed by denaturing gradient gel electrophoresis. A group of 38 Swedish patients with a clinical diagnosis of autosomal dominant retinitis pigmentosa were screened for mutations in the peripherin/RDS gene. RESULTS: Three point mutations were found in four of the patients and five polymorphisms were defined. One mutation in exon 1, R172W, has been described previously in other ethnic groups as causing a macular degeneration. Another mutation, in exon 2 and causing the substitution F211L, was found in two unrelated patients. A third mutation, resulting in the likely non-pathogenic substitution S289L, as well as a polymorphism not reported previously, was found in exon 3. CONCLUSIONS: The screening procedure described allows detection of mutations in all of the exons, including the polymorphic 5' and 3' ends of the gene, and is therefore suitable for routine screening of peripherin/RDS gene defects in patients with autosomal dominant retinitis pigmentosa. The frequency of mutations found in the Swedish patient group indicates that defects in the peripherin/RDS gene might be a more common cause of autosomal dominant retinitis pigmentosa than was thought previously.
11.	Ekström, Ulf, et al. (författare) Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS 1998 Ingår i: Ophthalmic Genetics. - : Swets & Zeitlinger Publishers. - 1744-5094 .- 1381-6810. ; 19:1, s. 27-37 Tidskriftsartikel (refereegranskat)abstract PURPOSE: To characterize the clinical phenotype, with emphasis on electrophysiology, of members of a Swedish family with autosomal dominant retinitis pigmentosa due to a novel mutation, F211L, in the peripherin/RDS gene. METHODS: Nine patients with autosomal dominant retinitis pigmentosa and two healthy family members underwent a full clinical evaluation including kinetic visual field testing, measurement of dark adaptation threshold, and full-field electroretinography. Blood samples were collected and DNA analysis was performed using denaturing gradient gel electrophoresis (DGGE). RESULTS: The grandfather, six of seven siblings from the middle generation, and two young boys carried the mutation F211L in the peripherin/RDS gene. The mutation segregated with the clinical presentation of disease. Fundus examination revealed mainly macular atrophy. All assessed parameters of retinal function (visual acuity, dark adaptation threshold, visual fields, and full-field electroretinograms) demonstrated a successive reduction with increasing age. Full-field electroretinograms showed a diminished rod response in all affected individuals and a reduction of the cone b-wave amplitudes with increasing age, indicating retinitis pigmentosa. In the affected family members, the disease seems to progress at a similar rate with increasing age. CONCLUSIONS: The peripherin/RDS gene mutation F211L is associated with a clinical phenotype and includes early loss of rod function and successive reduction of cone function with increasing age, but impressively well-preserved visual acuity and visual fields in young and middle-aged patients and moderately reduced vision in the old patient. Compared to previously described phenotypes segregating with mutations in the peripherin/RDS gene, the present family demonstrates a more benign clinical phenotype, which is concordant within the family.
12.	Friedman, James S., et al. (författare) Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa 2009 Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 84:6, s. 792-800 Tidskriftsartikel (refereegranskat)abstract Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a disease-causing mutation, c.449G -> A (p.S150N), in exon 6 of the KLHL7 gene. Mutation screening of KLHL7 in 502 retinopathy probands has revealed three different missense mutations in six independent families. KLHL7 is widely expressed, including expression in rod photoreceptors, and encodes a 75 kDa protein of the BTB-Kelch Subfamily within the BTB superfamily. BTB-Kelch proteins have been implicated in ubiquitination through Cullin E3 ligases. Notably, all three putative disease-causing KLHL7 mutations are within a conserved BACK domain; homology modeling suggests that mutant amino acid side chains can potentially fill the cleft between two helices, thereby affecting the ubiquitination complexes. Mutations in an identical region of another BTB-Kelch protein, gigaxonin, have previously been associated with giant axonal neuropathy. Our studies suggest an additional role of the ubiquitin-proteasome protein-degradation pathway in maintaining neuronal health and in disease.
13.	Gränse, Lotta, et al. (författare) Electrophysiologic findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene 2001 Ingår i: Ophthalmic Genetics. - : Swets & Zeitlinger Publishers. - 1744-5094 .- 1381-6810. ; 22:2, s. 97-105 Tidskriftsartikel (refereegranskat)abstract Purpose: To characterize the clinical phenotype, with emphasis on electrophysiology, of two children with suspected Bothnia dystrophy. Methods: Two unrelated affected patients, 10 and 11 years old, were studied. Ophthalmological examination included testing of visual acuity, fundus inspection and fundus photography, kinetic perimetry, full-field electroretinogram (ERG), and multifocal ERG. The presence of a mutation in exon 7 of the RLBP1 gene was investigated by DNA sequencing. Results: Both patients were homozygous for the Arg234Trp-causing mutation in the RLBP1 gene, but the resulting disease phenotype appeared to vary somewhat between them. Visual acuity was moderately reduced in one patient and normal in the other. Fundus inspection at this age revealed no pathology in either patient and there were no signs of retinitis punctata albescens, which has been described previously as a frequent clinical feature of Bothnia dystrophy. The result of kinetic perimetry was normal. The final rod threshold was moderately elevated. Full-field ERG demonstrated the uncommon combination of absent rod response and normal cone response after 40 minutes of dark adaptation. However, after prolonged dark adaptation (20-24 h), both the rod response and the dark adaptation threshold became normal. Multifocal ERG was performed in one of the patients (the one with normal visual acuity and normal fundus appearance) and showed a reduced cone response in the central region of the tested area. There was no improvement of the multifocal ERG result after 20-24 h of dark adaptation. Conclusion: Patients with mutations in the RLBP1 gene (Arg234Trp) may have a normal fundus appearance early in the disease course. Multifocal ERG can be used for the objective documentation of the disturbed macular function, especially when the patient's visual acuity and fundus appearance are normal. The rod response is absent in the electroretinogram; however, after prolonged dark adaptation (20-24 hours), the rods recover completely. The central cones do not seem to recover.
14.	Gränse, Lotta, et al. (författare) Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene 2003 Ingår i: Ophthalmic Genetics. - : Swets & Zeitlinger Publishers. - 1744-5094 .- 1381-6810. ; 24:4, s. 233-245 Tidskriftsartikel (refereegranskat)abstract OBJECTIVE: To characterize the clinical phenotype, with emphasis on electrophysiology and blood flow measurements, of a family with dominant optic nerve atrophy and an identified mutation in the OPA1 gene. METHODS: Seven family members were examined. Ophthalmological evaluation included testing of visual acuity, ophthalmolscopy, kinetic perimetry, color vision testing, full-field electroretinography (ERG), multifocal electroretinography (MERG), and multifocal visual evoked potential (MVEP). Retrobulbar arterial blood flow and retinal capillary perfusion was measured in three patients using scanning laser Doppler flowmetry (SLDF) and color Doppler imaging techniques. PCR-SSCP and DNA sequencing determined the presence of a mutation in exon 18 of the OPA1 gene. RESULTS: The clinical characteristics varied considerably in the family. The ERG and the MERG demonstrated normal retinal function, while the MVEP was abnormal in all examined patients. Retinal and optic nerve head capillary perfusion was significantly decreased in the three patients examined with SLDF. Retrobulbar blood flow velocities were significantly decreased in the central retinal and ophthalmic arteries. In all seven examined subjects, a microdeletion (1756-1767del(12 bp)) in the OPA1 gene was identified. CONCLUSION: Patients with a mutation in the OPA1 gene have a very variable phenotype. MVEP and blood flow measurements are two new objective methods for an easier detection of this specific genetic optic nerve atrophy.
15.	Gränse, Lotta, et al. (författare) Full-field ERG, multifocal ERG and multifocal VEP in patients with retinitis pigmentosa and residual central visual fields. 2004 Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907 .- 1600-0420. ; 82:6, s. 701-706 Tidskriftsartikel (refereegranskat)
16.	Grönlund, Marita Andersson, 1959, et al. (författare) Multifocal electroretinogram and multifocal visual evoked potential in a family with x-linked retinitis pigmentosa 2003 Ingår i: ARVO, Fort Lauderdale, USA, 4-9 maj 2003. Konferensbidrag (refereegranskat)
17.	Holm, Kristina, et al. (författare) Using multifocal electroretinography hard exudates affect macular function in eyes with diabetic retinopathy 2010 Ingår i: Graefe's Archive for Clinical and Experimental Ophthalmology. - : Springer Science and Business Media LLC. - 1435-702X .- 0721-832X. ; 248:9, s. 1241-1247 Tidskriftsartikel (refereegranskat)abstract To evaluate the influence of hard exudates on macular function in patients with diabetic retinopathy. METHODS: Thirty seven eyes from 27 diabetic patients, aged 57 +/- 14 years, diabetes duration 12.5 +/- 9 years, not previously treated with photocoagulation, underwent fundus photography, multifocal electroretinography (mfERG) and optical coherence tomography (OCT). Hard exudates were graded from fundus photography with superimposed OCT and a superimposed hexagonal pattern (mfERG) by one retinal specialist, unaware of mfERG and OCT results. We defined three groups; A = eyes with exudates in the analyzed zone, B = eyes with no exudates in the analyzed zone but elsewhere, and C = eyes with no exudates. The mfERG responses and OCT values from five defined areas in the macula were compared. RESULTS: MfERG showed that the implicit time was significantly prolonged in group A compared to group C in the central, middle and outer areas and in the nasal and temporal area (p = 0.045, 0.019, 0.017 and 0.035 and 0.016 respectively), in group B compared to group C in the central area (p = 0.016), and in group A compared to group B in the outer area (p = 0.035). Amplitude differed between group A and C in the middle area and outer area (14.2 +/- 5.2 nV/deg(2) vs 21.1 +/- 8.7 nV/deg(2), p = 0.037 and 14.1 +/- 3.9 nV/deg(2) vs 17.7 +/- 7.1 nV/deg(2) , p = 0.02 respectively), and between group B and C in the temporal area 14.5 +/- 2.2 nV/deg(2) vs 20.0 +/- 8.7 nV/deg(2), p = 0.017). Macular thickness assessed with OCT was similar between the groups. CONCLUSIONS: In eyes with diabetic retinopathy, hard exudates prolong the implicit time assessed with mfERG, compared to eyes without hard exudates, and independently of macular thickness. These results indicate that the hard exudates in the macular region, even at a distance from the fovea centre, have a deleterious effect on macular function.
18.	Hugosson, Therése, et al. (författare) Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7) 2009 Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1744-5094 .- 1381-6810. ; 30:1, s. 1-6 Tidskriftsartikel (refereegranskat)abstract Purpose: To characterize the clinical phenotype regarding retinal function and macular appearance in patients with spinocerebellar ataxia type 7 (SCA 7), with an emphasis on electrophysiological findings. Methods: Three patients from two Swedish families were given an ophthalmological examination including visual acuity, fundus inspection, Farnsworth's color vision test, Goldmann perimetry, full-field electroretinography (full-field ERG), multifocal electroretinography (mfERG) and optical coherence tomography (OCT). DNA was analyzed with polymerase chain reaction for CAG trinucleotide expansion repeats in the SCA 7 gene. Results: Molecular analysis demonstrated abnormally expanded CAG repeats in the gene for SCA 7, which encodes the protein ataxin-7, thus confirming the diagnosis SCA 7. In the oldest patient very discreet pigmentary changes in the maculae were found, but with that exception the patients had a normal ophthalmoscopic fundus appearance and OCT demonstrated only minor changes. MfERG indicated predominantly central involvement, especially in the early disease stages, which in pace with disease progression extended from the center to the more peripheral areas. Full-field ERG in the oldest patient demonstrated bilaterally distinctly prolonged 30-Hz flicker implicit time, verifying widespread cone photoreceptor degeneration. Conclusions: The patients with genetically confirmed SCA 7 presented an early macular dysfunction, preceding any signs of abnormalities in fundus appearance. According to the electrophysiological findings the primary dysfunction involves the cone photoreceptors in the foveal region, however in an older patient involvement of cone photoreceptors throughout the retina was verified. This is in accordance with the theory that ataxin-7 interacts with CRX transcription, since it is known that mutations in the CRX gene cause cone-rod dystrophy.
19.	Hugosson, Therése, et al. (författare) Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. 2010 Ingår i: Archives of Ophthalmology. - : American Medical Association (AMA). - 0003-9950. ; 128:6, s. 772-778 Tidskriftsartikel (refereegranskat)abstract OBJECTIVE: To characterize the clinical phenotype, with an emphasis on electrophysiologic findings, in a family with autosomal dominant retinitis pigmentosa caused by mutation in the recently identified KLHL7 gene. METHODS: Eleven patients from a single family were selected from the Swedish retinitis pigmentosa register. Four patients had been examined 13 to 17 years earlier and underwent further ophthalmologic examination, including visual acuity, fundus inspection, Goldmann perimetry, full-field electroretinography (ERG), multifocal ERG, and optical coherence tomography. KLHL7 mutation was identified by sequence analysis. RESULTS: In most examined family members, the fundus showed minor abnormalities. Full-field ERG demonstrated reduced cone and rod function, but rod responses were preserved in some patients late in life. Follow-up (T) in 7 family members. CONCLUSIONS: Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa. Clinical examination with long-term follow-up verified a phenotype with a varying degree of retinal photoreceptor dysfunction and, in some family members, with late onset and preserved rod function until late in life. Clinical Relevance Patients with minor retinal abnormalities and normal ERG findings early in life can harbor an autosomal dominant form of retinitis pigmentosa with a varying degree of visual impediment. Some patients with late onset may retain night vision for many years.
20.	Jacobson, S G, et al. (författare) Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa 1999 Ingår i: Digital Journal of Ophthalmology. - 1542-8958. ; 5:6 Tidskriftsartikel (refereegranskat)abstract Two families with retinitis pigmentosa showed inheritance of an Arg-16-His ROM1 gene mutation with either an Arg-13-Trp RDS mutation or an Arg-135-Trp RHO mutation. The phenotypes of double and single heterozygotes were determined to examine the hypothesis that digenic inheritance may increase disease expression. In the family with ROM1 and RDS mutations, single heterozygotes were normal but one double heterozygote showed severe RP. Two other double heterozygotes, however, were normal by clinical and retinal function tests. In the family with ROM1 and RHO mutations, single heterozygotes with the RHO mutation all manifested RP, while a single heterozygote for the ROM1 mutation was normal. Disease severity was comparable in double heterozygotes and single heterozygotes HAVING the RHO mutation. We conclude that the Arg-16-His ROM1 gene mutation is non-pathogenic in the single heterozygous state, and there is no consistent evidence of digenic augmentation of pathogenicity in double heterozygotes carrying the Arg-16-His ROM1 mutation with either the benign Arg-13-Trp RDS mutation or the disease-causing Arg-135-Trp RHO mutation.
21.	Kjellström, Sten, et al. (författare) Long-term 12 year follow-up of X-linked congenital retinoschisis. 2010 Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1744-5094 .- 1381-6810. ; Jul 1, s. 114-125 Tidskriftsartikel (refereegranskat)abstract Purpose: To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood. Methods: Ten patients clinically diagnosed with XLRS were investigated at 6-15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patients underwent regular ophthalmic examination as well as testing of best corrected visual acuity (BCVA), visual field (VF) and assessment of full-field electroretinography (ERG) during their first visit. During the follow-up, the same clinical protocols were repeated. In addition, macular structure and function was examined with multifocal electroretinography (mfERG) and optical coherence tomography (OCT). The patients were 18-25 years of age (mean age 21 years) at the follow-up examination. All exons and exon-intron boundaries of RS1-gene were sequenced for gene mutations in 9 out of the 10 patients. Results: Best corrected VA and VF were stable during this follow-up period. No significant progression in cone or rod function could be measured by full-field ERG. Multifocal electroretinography and OCT demonstrated a wide heterogeneity of macular changes in retinal structure and function at the time of follow-up visit. Three different mutations were detected in these nine patients, including a known nonsense mutation in exon 3, a novel insertion in exon 5 and an intronic mutation at 5' splice site of intron 3. Conclusions: Clinical follow-up (mean 12 years) of ten young XLRS patients (mean age of 9 years) with a typical congenital retinoschisis phenotype revealed no significant decline in retinal function during this time period. MfERG and OCT demonstrated a wide variety of macular changes including structure and dysfunction. The XLRS disease was relatively stable during this period of observation and would afford opportunity for therapy studies to judge benefit against baseline and against the fellow eye.
22.	Kjellström, Sten, et al. (författare) Retinal function and histopathology in rabbits treated with Topiramate. 2006 Ingår i: Documenta Ophthalmologica. - : Springer Science and Business Media LLC. - 1573-2622 .- 0012-4486. ; 113:3, s. 179-186 Tidskriftsartikel (refereegranskat)abstract Purpose To evaluate retinal function and histopathology in rabbits treated orally with the antiepileptic drug topiramate. Methods Six rabbits were treated with a daily oral dose of topiramate during a period of eight months. Six rabbits receiving water served as controls. Blood samples were analyzed for determination of topiramate serum levels in order to ensure successful drug exposition. Standardized full-field electroretinograms (ERGs) were performed before treatment and then at 2, 3 and 8 months during the treatment period. After terminating treatment the rabbits were sacrificed and the morphology of the sectioned retina was studied. Results After eight months of treatment the fullfield ERG demonstrated normal rod function in treated and control rabbits, but the light adapted 30 Hz flicker b-wave amplitude was significantly reduced in the treated rabbits. This was the case for both the light adapted (Wilcoxon signed ranks test, P=0.046) and the dark adapted (Wilcoxon signed ranks test, P=0.028) 30 Hz flicker response from the treated rabbits. Retinal immunohistology revealed a severe accumulation of GABA in amacrine cells and in the inner plexiform layer in 4 of 6 treated rabbits compared to the controls. Conclusions Topiramate, orally administrated to rabbits, may cause a significant reduction of the retinal function demonstrated by the reduced b-wave amplitude in the full-field ERG, as well as changes in immunohistology characterized by a severe accumulation of GABA in the inner retina. The retinal dysfunction and the morphological changes indicate that topiramat may damage the retina, similarly to vigabatrin (another antiepileptic drug).
23.	Kjellström, Ulrika, et al. (författare) Attenuation of the retinal nerve fibre layer and reduced retinal function assessed by optical coherence tomography and full-field electroretinography in patients exposed to vigabatrin medication. 2014 Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-3768 .- 1755-375X. ; 92:2, s. 149-157 Tidskriftsartikel (refereegranskat)abstract Purpose: To investigate the clinical value of assessment of peripapillary retinal nerve fibre layer (RNFL) thickness with OCT in addition to the evaluation of retinal function measured by full-field electroretinography (ff-ERG) in patients with suspected vigabatrin (VGB)-attributed visual field defects. Methods: Visual fields from adult patients in our clinical follow-up program for VGB medication were analysed. Twelve patients with suspected VGB-attributed visual field defects were selected for the study. They were re-examined with computerized kinetic perimetry, ff-ERG and OCT (2D circle scan). Results: Constricted visual fields were found in all patients. Comparative analysis of ff-ERG parameters showed reduced b-wave amplitudes for the isolated and the combined rod and cone responses (p < 0.0001). The a-wave, reflecting photoreceptor activity, was reduced (p = 0.001), as well as the summed amplitude of oscillatory potentials (p = 0.029), corresponding to inner retinal function. OCT measurements demonstrated attenuation of the RNFL in nine of 12 patients, most frequently superiorly and/or inferiorly. No temporal attenuation was found. Significant positive correlations were found between the total averaged RNFL thickness, superior and inferior RNFL thickness and reduced ff-ERG parameters. Positive correlations were also found between RNFL thickness and isopter areas. Conclusion: OCT measurements can detect attenuation of the RNFL in patients exposed to VGB medication. RNFL thickness correlates with reduced ff-ERG parameters and isopter areas of constricted visual fields, indicating that VGB is retino-toxic on several levels, from photoreceptors to ganglion cells. The study also supports previous studies, suggesting that OCT measurement of the RNFL thickness may be of clinical value in monitoring patients on vigabatrin therapy.
24.	Kjellström, Ulrika, et al. (författare) Dose-related changes in retinal function and PKC-alpha expression in rabbits on vigabatrin medication : Effect of vigabatrin in the rabbit eye. 2009 Ingår i: Graefe's Archive for Clinical and Experimental Ophthalmology. - : Springer Science and Business Media LLC. - 1435-702X .- 0721-832X. ; 247:8, s. 1057-1067 Tidskriftsartikel (refereegranskat)abstract BACKGROUND: To investigate, in a rabbit model, the effect of two different doses of vigabatrin (VGB) on retinal function and morphology. METHODS: Twenty-nine rabbits of mixed strain were divided into two groups, receiving either high-dose (n = 15) or low-dose (n = 14) oral VGB treatment (cumulative dose 29.8 +/- 2.9 g and 14.2 +/- 0.6 g respectively). Ten rabbits receiving water served as control animals. The rabbits underwent three baseline ff-ERG measurements before initiation of VGB medication and two ff-ERG registrations during treatment, after 8 and 12-14 weeks respectively. At the end of the study, the expression of protein kinase C-alpha (PKC-alpha), gamma amino butyric acid (GABA) A receptors, vimentin, glial fibrillary acidic protein (GFAP) and peanut agglutinin (PNA) was examined in retinal sections from all rabbits. RESULTS: In animals of the high-dose group, the ff-ERG measurements revealed a significant decrease of isolated rod b-wave amplitudes, combined rod-cone b-wave amplitudes and amplitudes of oscillatory potentials (OPs); OP1, OP2 and OP3. In the low-dose group, the b-wave amplitudes of combined rod-cone responses as well as OP2 and OP3 were significantly reduced. PKC-alpha labeling demonstrated a dose-related translocation of the enzyme in rod bipolar cells, also revealing a significant decline of the number of PKC-alpha labeled rod bipolar cells in treated animals. Vimentin labeling showed a dose-related deviant labeling pattern of Müller cells, with strikingly low labeling intensity in the outer parts of the cells; in the outer limiting membrane (OLM) as well as the outer nuclear layer (ONL). Labeling with antibodies against GABA A receptors and GFAP, as well as PNA staining, revealed no differences between treated animals and controls. CONCLUSIONS: In this study, VGB medication was associated, in a dose-related manner, with a decrease of ff-ERG amplitudes as well as with altered protein expression in rod bipolar cells and Müller cells, suggesting alterations of inner retinal function. The dose-related morphological and electrophysiological changes indicate a retinal pathology that may explain the constricted visual fields seen in some patients treated with VGB.
25.	Kjellström, Ulrika, et al. (författare) Electrophysiological evaluation of retinal function in children receiving vigabatrin medication 2011 Ingår i: Journal of Pediatric Ophthalmology and Strabismus. - : SLACK, Inc.. - 0191-3913 .- 1938-2405. ; 48:6, s. 65-357 Tidskriftsartikel (refereegranskat)abstract PURPOSE: To evaluate retinal function in children taking vigabatrin and to explore the influence of age and dose parameters on the results of full-field electroretinography (ff-ERG).METHODS: The ff-ERGs from 14 children receiving vigabatrin were compared with ff-ERGs from healthy controls. Treated children were further grouped according to age (pre-school = 12-71 months; older = 72-228 months). Parameters of drug dosage were compared.RESULTS: Treated children showed rod and cone dysfunction reflected by reduced b-wave amplitudes for the isolated rod response, the combined rod-cone response, and the 30-Hz flicker response. The a-wave amplitude and implicit time for the combined rod-cone response, reflecting photoreceptor function, were also altered. Further evaluation of age groups revealed similar findings in the pre-school group but not in the older group. Alterations in ff-ERG were seen in 57% of the treated children. Pre-school children had received significantly higher daily drug doses with start of medication at younger age. No differences were found concerning cumulative doses or duration of medication.CONCLUSION: Alterations in ff-ERG are as frequent in children as in adults and the results indicate that exposure to high daily doses of vigabatrin may be associated with increased risk of retinal dysfunction, including photoreceptor damage, not previously shown in children. Thus, recommendations of careful follow-up for children receiving vigabatrin are supported.
26.	Kjellström, Ulrika, et al. (författare) Full-field ERG and visual fields in patients 5 years after discontinuing vigabatrin therapy. 2008 Ingår i: Documenta Ophthalmologica. - : Springer Science and Business Media LLC. - 1573-2622 .- 0012-4486. ; 117, s. 93-101 Tidskriftsartikel (refereegranskat)abstract Purpose In numerous studies vigabatrin medication has been associated with visual field constriction and alterations in the full-field electroretinogram (ff-ERG), but it is not clear whether these changes are reversible or not. The purpose of this study was to examine patients with visual field loss and reduced ff-ERG several years after discontinuing vigabatrin therapy, in order to investigate reversibility. Methods Eight patients with visual field constriction and reduced cone responses measured by 30 Hz flicker ERG were examined with Goldmann perimetry and ff-ERG 4-6 years after discontinuing medication. The results were compared with investigations conducted during medication, 4-6 years previously. Statistical analysis was also used to compare the ff-ERG results of the patients, during treatment and at follow-up, with a group of 70 healthy subjects. Results Visual field constriction remained 4-6 years after discontinuing vigabatrin therapy. The amplitude of the 30 Hz flicker response also remained reduced on follow-up both compared with the results during treatment and with the control group. Moreover, the amplitude of the isolated rod response and the combined rod-cone response were decreased in the patients compared with the control group, during vigabatrin treatment as well as on follow-up. On follow-up, oscillatory potentials (OPs) also were registered, showing reduced amplitudes in patients compared with controls. The within subject comparison showed no significant changes. Conclusion Vigabatrin attributed visual field constriction and reduced ff-ERG responses remain several years after discontinuing vigabatrin therapy, indicating drug-induced permanent retinal damage.
27.	Kjellström, Ulrika, et al. (författare) Retinal function in rabbits does not improve 4-5 months after terminating treatment with vigabatrin. 2006 Ingår i: Documenta Ophthalmologica. - : Springer Science and Business Media LLC. - 1573-2622 .- 0012-4486. ; 112:1, s. 35-41 Tidskriftsartikel (refereegranskat)
28.	Lövestam Adrian, Monica, et al. (författare) Macular function assessed with mfERG before and after panretinal photocoagulation in patients with proliferative diabetic retinopathy. 2004 Ingår i: Documenta Ophthalmologica. - : Springer Science and Business Media LLC. - 1573-2622 .- 0012-4486. ; 109:2, s. 115-121 Tidskriftsartikel (refereegranskat)
29.	Malm, Eva, et al. (författare) Alteration of rod and cone function in children with Usher syndrome 2011 Ingår i: European Journal of Ophthalmology. - Milan, Italy : Wichtig Editore Srl. - 1120-6721 .- 1724-6016. ; 21:1, s. 30-38 Tidskriftsartikel (refereegranskat)abstract Purpose: To evaluate the retinal function, with emphasis on phenotype and rate of progression, in infants and children with different genotypes of Usher syndrome.Methods: Fourteen children (2-10 years of age) with retinitis pigmentosa and hearing impairment were examined with full-field electroretinography (ERG) during general anesthesia, ophthalmologic examination, and genetic analysis. Five children were repeatedly examined (follow-up 5-10 years) with full-field ERG under local anesthesia and in 2 children multifocal ERG and optical coherence tomography (OCT) were performed. These results were compared to full-field ERG data from 58 children without retinal eye disorder.Results: Six children were genotyped as Usher 1B, 2A, and 3A. Full-field ERG demonstrated early alterations corresponding to a rod-cone dystrophy in all children. A remaining rod function could be verified in the majority of the children up to 4 years of age. After 4 years of age, there was a further deterioration of the rod function; the progress was severe in Usher types 1 and 2 and moderate in Usher type 3. In all children, the cone function was moderately reduced, in a few cases almost normal. The results from the 58 children without retinal disorder confirm that full-field ERG during general anesthesia is reliable. Multifocal ERG confirmed a preserved central cone function and in OCT there were discrete structural alterations.Conclusions: Full-field ERG during general anesthesia in children with Usher syndrome demonstrates variable phenotypes and different degrees in rate of progression during childhood.
30.	Malm, Eva, et al. (författare) Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome 2008 Ingår i: Archives of ophthalmology (1960). - Chicago : American medical association. - 0003-9950. ; 126:1, s. 51-57 Tidskriftsartikel (refereegranskat)abstract OBJECTIVES: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS: Three age- and sex-matched patients with Alström syndrome were selected from our retinitis pigmentosa register for repeated ophthalmologic examinations that included tests for color vision and visual fields using Goldmann perimetry and for repeated assessment of full-field ERGs. RESULTS: Electroretinography demonstrated cone-rod degeneration in all 3 patients. A concomitant impairment of color vision and visual fields was also observed as well as marked variation in retinal function and in disease severity. CONCLUSIONS: Full-field ERGs confirmed that Alström syndrome is associated with a cone-rod type of retinal degeneration. In this study, we have shown a striking variability in retinal function and disease onset and severity, which has, to our knowledge, not been described previously in Alström syndrome.
31.	Malm, Eva, et al. (författare) Full-field electroretinography in young patients with Usher syndrome ( Abstracts of the XXXVIII Nordic Congress of Ophthalmology 14-17 June 2008) 2008 Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-3768 .- 1755-375X. ; 86:s241, s. 29-29 Konferensbidrag (refereegranskat)
32.	Malm, Eva, et al. (författare) Phenotypes in defined genotypes including siblings with Usher syndrome 2011 Ingår i: Ophthalmic Genetics. - : Informa Healthcare. - 1381-6810 .- 1744-5094. ; 32:2, s. 65-74 Tidskriftsartikel (refereegranskat)abstract OBJECTIVE: To characterize visual function in defined genotypes including siblings with Usher syndrome.METHODS: Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fields, full-field electroretinography (ERG), multifocal electroretinography (mf ERG), and optical coherence tomography (OCT) were assessed. The patients' degree of visual handicap was evaluated by a questionnaire (ADL).RESULTS: Twelve of thirteen patients were genotyped as Usher 1B, 1D, 1F, 2A, 2C or 3A. In 12 of 13 patients examined with ERG the 30 Hz flickering light response revealed remaining cone function. In 3 of the patients with Usher type 1 mf ERG demonstrated a specific pattern, with a sharp distinction between the area with reduced function and the central area with remaining macular function and normal peak time. OCT demonstrated loss of foveal depression with distortion of the foveal architecture in the macula in all patients. The foveal thickness ranged from 159 to 384 µm and was not correlated to retinal function. Three siblings shared the same mutation for Usher 2C but in contrast to previous reports regarding this genotype, 1 of them diverged in phenotype with substantially normal visual fields, almost normal OCT and mf ERG findings, and only moderately reduced rod and cone function according to ERG.CONCLUSIONS: Evaluation of visual function comprising both the severity of the rod cone degeneration and the function in the macular region confirm phenotypical heterogeneity within siblings and between different genotypes of Usher syndrome.
33.	Ponjavic, Vesna, et al. (författare) A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267–Leu 1997 Ingår i: Ophthalmic Genetics. - 1744-5094. ; 18:2, s. 63-70 Tidskriftsartikel (refereegranskat)abstract By screening blood samples from patients with autosomal dominant retinitis pigmentosa, we found in one of the families a rhodopsin mutation (Pro-267-Leu), which segregates with the disease in two affected and five unaffected family members. Here, we present the results of the clinical evaluation of the family, including full-field electroretinography from the two affected family members. A 25-year-old family member with the mutation had an almost normal electrophysiological retinal response. The patient's father, who was also heterozygous for the mutation and had mild subjective symptoms of retinitis pigmentosa, demonstrated a substantially preserved retinal function. Our results suggest that the Pro-267-Leu rhodopsin mutation is associated with a very mild phenotype of retinitis pigmentosa. Young patients with the disease may have minimal pathological changes in the electroretinogram and some patients with few symptoms may be affected without acquiring a diagnosis of eye disease.
34.	Ponjavic, Vesna, et al. (författare) Alterations in electroretinograms and retinal morphology in rabbits treated with vigabatrin 2004 Ingår i: Documenta Ophthalmologica. - 1573-2622. ; 108:2, s. 125-133 Tidskriftsartikel (refereegranskat)abstract PURPOSE: To determine whether long-term treatment with the anti-epileptic drug vigabatrin causes damage to rabbit retina.METHODS: Five rabbits were treated continuously with a daily dose of vigabatrin solution per orally during a period of 1-8 months. Two rabbits receiving water were used as controls. Repeated full-field electroretinograms (every two weeks) were assessed during this period. Vigabatrin serum concentration was repeatedly measured for securing successful drug administration. After termination of treatment the rabbits were sacrificed and the morphology of the sectioned retina was studied.RESULTS: In all rabbits treated with vigabatrin the serum analyses repeatedly demonstrated elevated drug concentration. Full-field electroretinograms demonstrated normal rod function in all treated rabbits, but reduced cone function in two of the five treated rabbits verified by 30Hz flicker stimulation. Morphologic studies of the sectioned retina demonstrated GFAP immunoactivity of the glial cells localized in the retinal periphery in all five treated rabbits, one of which had staining also in the centrally localized glial cells. The treated rabbits also demonstrated a weaker GAD staining in the IPL and less positive amacrine cells, compared to the controls. Only two treated rabbits had normal GABA staining while three had an enhanced GABA immunoreactivity and undistinguishable fibers in the IPL. In three out of five treated rabbits the Müller cells were short, stubby and fragmented, with swollen endfeet.CONCLUSION: This study demonstrates changes in histopathology caused by vigabatrin in an animal model, which has not been reported previously. We have found that vigabatrin orally administrated to rabbits does not affect rod function but may reduce cone function in the full-field electroretinogram, which is similar to the previously reported vigabatrin effect on the human ERG. The results indicate that vigabatrin may damage or influence, at least one cell type in the rabbit retina.
35.	Ponjavic, Vesna, et al. (författare) Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135–Trp): Disease phenotype in a Swedish family 1997 Ingår i: Acta Ophthalmologica Scandinavica. - 1395-3907. ; 75:2, s. 218-223 Tidskriftsartikel (refereegranskat)abstract We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype. Further, point mutations in this specific region seem to cause an agressive form of retinitis pigmentosa.
36.	Ponjavic, Vesna, et al. (författare) Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype 1998 Ingår i: Ophthalmic Genetics. - 1744-5094. ; 19:4, s. 187-196 Tidskriftsartikel (refereegranskat)abstract PURPOSE: To examine the clinical phenotype with emphasis on electroretinograms and visual fields in a Swedish family with X-linked retinitis pigmentosa (XLRP) type 2 (RP2), and compare it with Swedish XLRP families with the RP3 genotype. METHODS: Three affected brothers and their carrier mother were examined clinically and with kinetic perimetry, dark adaptation thresholds, and full-field electroretinograms. The genotype was determined by haplotype analysis using polymorphic markers spanning the XLRP loci at the short arm of the X chromosome. RESULTS: The phenotype was consistent in the three affected males. The first subjective symptom was night blindness and the visual disability was more pronounced with increasing age. Affected individuals had a slight decrease in visual acuity and were emmetropic. They demonstrated a pathologically elevated final rod threshold. The visual fields were constricted in a somewhat atypical pattern. The three patients had an early presenting atypical cataract with multiple opacities. The fundus appearance was typical for RP with narrowing of retinal vessels and bone spicule pigmentations. The rod electroretinograms were extinguished in both eyes of the patients. The combined rod-cone responses as well as the isolated cone responses were severely reduced in amplitude; however, atypically for RP, the implicit time for the isolated cone responses was normal. The carrier female demonstrated normal ophthalmological findings, with the exception of two minimal pigmentations in the lower quadrants of the left eye. Haplotype analysis demonstrated that the disease in this family segregates with the RP2 locus. CONCLUSION: The phenotype of the studied RP2 family is associated with early onset of night blindness, emmetropia, a slight decrease in visual acuity, constriction of visual fields, and atypical cataract formation. Electroretinograms demonstrate severe rod dysfunction and surprisingly normal cone response implicit times which may indicate a milder disease progression. These findings are different from earlier descriptions of the RP2 and RP3 phenotypes.
37.	Ponjavic, Vesna, et al. (författare) Phenotype variation within a choroideremia family lacking the entire CHM gene 1995 Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1744-5094 .- 1381-6810. ; 16:4, s. 143-150 Tidskriftsartikel (refereegranskat)abstract A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electro-retinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the affected males demonstrated a severe form of choroideremia with low or nondetectable ERG recordings, while the other two affected males showed a less severe phenotype with only a slight reduction of the ERG amplitudes. The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity of choroideremia is not solely a function of the CHM gene.
38.	Ponjavic, Vesna (författare) Phenotypes and genotypes in families with hereditary tapetoretinal degenerations 1997 Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract The purpose of the study was to characterise the phenotype with emphasis on electroretinography in four different types of hereditary retinal degeneration and to correlate it to a genotype when possible. Two methods were used: full-field electroretinography for objective assessment of retinal function and mutation screening of blood samples for detection of gene alterations. Electroretinograms from patients with central areolar choroidal dystrophy demonstrated a reduction of the cone b-wave amplitude and a prolongation of the implicit time indicating a generalised cone disease which is slowly progressive. Patients with choroderemia and a deletion of the CHM gene presented two different phenotypes, one mild and one severe, even though the genotype was identical in all examined patients, indicating that the severity of the phenotype is not solely a function of the CHM gene. Three families with autosomal dominant retinitis pigmentosa and different mutations in the rhodopsin and the peripherin gene were studied. The rhodopsin mutation Arg-135-Try is associated with a severe phenotype while patients with the mutation Pro-267-Leu have a mild retinal degeneration with a nearly normal electroretinogram early in the natural course of the disease. The peripherin mutation Phe-211-Leu is associated with a phenotype including early loss of rod function and a macular degeneration. Three families with X-linked retinitis pigmentosa and mutations in the RPGR gene had severely reduced electroretinograms and in one of the families also the carriers were visually disabled. A family with progressive autosomal dominant cone-rod dystrophy had an intrafamiliar variability of the phenotype with different degrees of rod involvement. It is concluded that both full-field electroretinography and DNA analysis should be included in the investigation of patients with hereditary retinal degenerations in order to achieve a reliable diagnosis and prognosis.
39.	Ponjavic, Vesna, et al. (författare) Reduced full-field electroretinogram (ERG) in a patient treated with methotrexate. 2004 Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907 .- 1600-0420. ; 82:1, s. 96-99 Tidskriftsartikel (refereegranskat)abstract Purpose: To examine retinal function in a patient with decreased vision possibly due to treatment with methotrexate. Methods: Ophthalmological examination included testing of visual acuity (VA), fundus inspection, fundus photography and kinetic perimetry. Retinal function was tested objectively with three electrophysiological methods: full-field electroretinography (ERG), multifocal electroretinography (mfERG) and electro-oculography (EOG). Results: A 13-year-old boy with psoriasis arthritis had been treated with methotrexate on a weekly basis for 8.5 years. After terminating treatment, his VA, which was reduced to 0.3 in both eyes initially, improved during the following 3 years but did not return to normal. No visual field defects were found with kinetic perimetry. The rod and cone responses in the full-field ERG were markedly reduced in b-wave amplitude initially, but grew slowly to nearly normal values 3 years later. After withdrawal of the drug, the mfERG demonstrated normal responses in the macular region. The Arden index in the EOG was normal. Conclusion: Chronic treatment with methotrexate may affect VA, and may reversibly reduce rod and cone function. In patients who use systemic medication and whose vision is reduced, objective evaluation of retinal function with electrophysiological methods is recommended.
40.	Ponjavic, Vesna, et al. (författare) Retinal dysfunction and anterior segment deposits in a patient treated with rifabutin 2002 Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907. ; 80:5, s. 553-556 Tidskriftsartikel (refereegranskat)abstract Purpose: To describe the clinical and electrophysiological findings in a young boy with decreased vision possibly due to retinal damage by rifabutin. Methods: An 8-year-old boy with osteomyelitis was referred due to visual disturbance. During a period of 4 years, the boy was examined six times with electroretinography. Ophthalmological examination included testing of visual acuity, slit-lamp inspection, fundus inspection, fundus photography and kinetic perimetry. Two electrophysiological methods were performed for objective evaluation of retinal function, namely full-field electroretinography and multifocal electroretinography. Results: We found a slightly reduced visual acuity, a slowly increasing amount of yellow-white deposits on the posterior surface of the cornea and on the anterior part of the lens, a normal fundus appearance, and normal visual fields. However, the electroretinogram was abnormal on several occasions during therapy with rifabutin, but returned to normal 3 months after withdrawal of the medication. The multifocal electroretinogram returned to normal after the full-field electroretinogram had done so. The anterior chamber deposits still remain. Conclusion: Long-term treatment with rifabutin may have a reversible and previously undescribed side-effect on retinal function. The drug may also accumulate irreversibly on the posterior surface of the cornea and on the anterior surface of the lens. We suggest that objective evaluation of retinal function with electrophysiological methods should be performed in patients with visual disturbance during treatment with rifabutin.
41.	Schatz, Patrik, et al. (författare) Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene. 2005 Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1744-5094 .- 1381-6810. ; 26:3, s. 24-119 Tidskriftsartikel (refereegranskat)
42.	Schatz, Patrik, et al. (författare) Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene). 2003 Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907. ; 81:5, s. 500-507 Tidskriftsartikel (refereegranskat)abstract Purpose: To describe the phenotype using electroretinography and optical coherence tomography (OCT) in members of two families with different mutations in RDS. Methods: DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucleotide sequencing of RDS exons. Patients were examined with clinical evaluation, full-field electroretinography (ERG), multifocal electroretinography (mfERG) and OCT. Results: An Arg-46 stop codon conversion and a Ser-125 Leu substitution were found, respectively, in affected members of the two families. Phenotypes included retinitis pigmentosa, central areolar choroidal dystrophy, macular dystrophy and adult vitelliform maculopathy. The vitelliform lesion was clearly delineated on OCT, but mfERG showed preserved function. Optical coherence tomography showed attenuation of retinal reflectivity in two cases. Conclusion: By combining traditional investigations with mfERG and OCT, we were able to obtain a more refined evaluation of contributing macular and generalized retinal dysfunction, respectively, in patients with hereditary retinal disease.
43.	Schatz, Patrik, et al. (författare) Multifocal electroretinography and optical coherence tomography in two patients with solar retinopathy. 2004 Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907 .- 1600-0420. ; 82:4, s. 476-480 Tidskriftsartikel (refereegranskat)
44.	Schatz, Patrik, et al. (författare) Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2 2006 Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1381-6810 .- 1744-5094. ; 27:2, s. 51-56 Tidskriftsartikel (refereegranskat)abstract Purpose: To characterize the phenotype of members of a Swedish family with Best macular dystrophy and two distinct mutations in VMD2. Methods: Venous blood samples were obtained from six family members and screened for mutations in VMD2. Six individuals were examined clinically, four of whom were further investigated with full-field electroretinography (ERG), electro-oculography (EOG), multifocal electroretinography (mfERG), and optical coherence tomography (OCT). Results: The VMD2 mutations resulting in Arg141His and Tyr29stop were identified in family members. Two individuals harbored both mutations, one mutation in each VMD2 allele. These two family members had an abnormal EOG and their full-field ERG demonstrated widespread degeneration with a prolonged implicit time in the cone 30-Hz flicker ERG. MfERG verified reduction of the central retinal function and OCT demonstrated intraretinal fluid, swelling, and thickening of the outer retina-RPE-choroid complex (ORCC). Conclusion: A previously undescribed severe form of Best macular dystrophy is associated with compound heterozygous mutations in VMD2.
45.	Träisk, Frank, et al. (författare) Thyroid-Associated Ophthalmopathy after Treatment for Graves´Hyperthyroidism with Antithyroid Drugs or lodine-131 2009 Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 94:10, s. 3700-3707 Tidskriftsartikel (refereegranskat)abstract Context: Previous randomized trials have suggested an association between radioiodine treatment for Graves' hyperthyroidism and thyroid-associated ophthalmopathy (TAO). Objectives: The aim of the study was to compare the occurrence of worsening or development of TAO in patients who were treated with radioiodine or antithyroid drugs. Design: We conducted a randomized trial (TT 96) with a follow-up of 4 yr. Patients, Setting, and Intervention: Patients with a recent diagnosis of Graves' hyperthyroidism were randomized to treatment with iodine-131 (163 patients) or 18 months of medical treatment (150 patients). Early substitution with T-4 was given in both groups. Main Outcome Measure: Worsening or development of TAO was significantly more common in the iodine-131 treatment group (63 patients; 38.7%) compared with the medical treatment group (32 patients; 21.3%) (P < 0.001). Results: The risk for de novo development of TAO was greater in patients treated with iodine-131 (53 patients) than with medical treatment(23patients). However, worsening of TAO in the 41 patients who had ophthalmopathy already before the start of treatment was not more common in the radioiodine group (10 patients) than in the medical group (nine patients). Smoking was shown to influence the risk of worsening or development of TAO, and smokers treated with radioiodine had the overall highest risk for TAO. However, in the group of smokers, worsening or development of TAO was not significantly associated with the choice of treatment for hyperthyroidism. Conclusions: Radioiodine treatment is a significant risk factor for development of TAO in Graves' hyperthyroidism. Smokers run the highest risk for worsening or development of TAO irrespective of treatment modality.
46.	Tyrberg, Maria, et al. (författare) Electrophysiological studies in newly onset type 2 diabetes without visible vascular retinopathy 2011 Ingår i: Documenta Ophthalmologica. - : Springer Science and Business Media LLC. - 0012-4486 .- 1573-2622. ; 123:3, s. 193-98 Tidskriftsartikel (refereegranskat)abstract The purpose of this study was to investigate the early alterations of retinal function, assessed with electrophysiology, in newly onset type 2 diabetes patients without vascular retinopathy. Seventeen patients with newly diagnosed type 2 diabetes (duration 7 ± 3 months), without any vascular retinopathy in fundus photographs, were examined with full-field electroretinogram (ERG) and multifocal ERG (mfERG). The results were compared with those of age-matched subjects without diabetes. In the dark-adapted full-field ERG, the a-wave and the 30-Hz flicker implicit times were delayed in diabetes patients compared to controls, P = 0.001 and P = 0.020. In the first-order kernel of the mfERG, the first positive wave, P1, was delayed in all areas measured. The electrophysiological examinations demonstrate early alterations of retinal function characterised by a delayed a-wave implicit time in the darkadapted full-field ERG, representing the rod signalling, and alterations in the multifocal ERG reflecting cone and/or postreceptoral function.
47.	Tyrberg, Maria, et al. (författare) Multifocal electroretinogram (mfERG) in patients with diabetes mellitus and an enlarged foveal avascular zone (FAZ) 2008 Ingår i: Documenta Ophthalmologica. - : Springer Science and Business Media LLC. - 1573-2622 .- 0012-4486. ; 117, s. 185-189 Tidskriftsartikel (refereegranskat)abstract Purpose To assess the relationship between foveal microcirculation and central retinal function in diabetic patients having both an enlarged foveal avascular zone (FAZ) and a preserved visual acuity (0.6 or better). Methods Twenty-five patients with diabetes type 1 or 2 with an enlarged FAZ (largest diameter > 650 mum) measured in fluorescein angiograms were examined with multifocal ERG (mfERG). The largest FAZ diameter, the FAZ area as well as the adjacent perifoveal intercapillary area (PIA), was calculated from the fluorescein angiogram. The retinopathy level was mild to preproliferative. There was no macular edema and no eye had previously been treated with photocoagulation. Results The mean FAZ diameter was 0.92 +/- 0.17 mm and the mean summed area (FAZ and PIA) was 0.74 +/- 0.24 mm(2). There was a significant correlation between increasing FAZ diameter and increasing implicit time of the innermost concentric rings and of the third concentric ring in the first order kernel of the mfERG (P = 0.03 and P = 0.008, respectively). An increasing summed area (FAZ and PIA) was correlated to increasing implicit time in the same areas of the mfERG (P = 0.005 and P = 0.026, respectively). No correlation was seen between the ischemic areas and the mfERG amplitudes. Conclusion A correlation between the ischemic areas and prolonged implicit time in the mfERG indicates that alterations in neuronal macular function due to ischemia might precede the deterioration of visual acuity.
48.	Tyrberg, Maria, et al. (författare) Multifocal electroretinography (mfERG) in insulin dependent diabetics with and without clinically apparent retinopathy 2005 Ingår i: Documenta Ophthalmologica. - : Springer Science and Business Media LLC. - 1573-2622 .- 0012-4486. ; 110:2-3, s. 137-143 Tidskriftsartikel (refereegranskat)abstract Purpose: To Study the retinal function, using multifocal electroretinography (mfERG), in diabetic patients with mild and moderate retinopathy, and in diabetics without clinically apparent retinopathy. Methods: Thirty-one patients with insulin dependent diabetes mellitus, eleven without any clinically apparent retinopathy, twelve with mild retinopathy and eight with moderate retinopathy, were studied. Ophthalmologic examination included testing Of Visual acuity, fundus inspection, fundus photography and mfERG. Sixteen subjects without eye disease and with normal visual acuity were used as controls for comparison of mfERG results. Results: The patients had a mean diabetes duration of 23 +/- 9 years. All patients and controls had a visual acuity of 1.0. In the first order component of the mfERG there were significantly higher ring amplitudes in the diabetics compared to the controls (p=0.001). In the second-order component of the mfERG, there was a significantly prolonged implicit time in the diabetics who had retinopathy compared to those without any retinopathy (p=0.026). The third positive waveform in the ring amplitudes of the second-order component, were absent in 15/31 of patients with diabetes, but were easily distinguished in all the controls; p < 0.001. This waveform was absent in 6/11 patients without retinopathy. Conclusion: Patients with insulin dependent diabetes have specific abnormalities in both the First and the second-order component of the mfERG. These abnormalities reflect both vascular changes in the retina and, probably simultaneously, pathology in inner retinal function, also in the diabetics without clinically apparent retinopathy.
49.	Wittström, Elisabeth, et al. (författare) Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy 2011 Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1381-6810 .- 1744-5094. ; 32:4, s. 217-227 Tidskriftsartikel (refereegranskat)abstract Purpose: To present the clinical and electrophysiological findings in four members of a family with Best vitelliform macular dystrophy (BVMD) and angle-closure glaucoma (ACG). Methods: Four members of a family with BVMD were examined clinically, including visual acuity, slit-lamp examination, biomicroscopy, Goldmann applanation tonometry and gonioscopy. Measurements of the anterior chamber depth and axial length, visual field, optical coherence tomography, full-field electroretinography, multifocal electroretinography and electrooculography were performed. In addition molecular genetic analysis of the bestrophin-1 gene (BEST1), the microphthalmia-associated transcription factor gene (MITF) and the cone-rod homeobox gene (CRX) were performed. Results: Four family members with the c.253T>C p.Y85H mutation in the BEST1 gene and BVMD in different stages also exhibited anterior segment abnormalities such as shallow anterior chambers (two cases), and reduced axial lengths in all cases. Microphthalmos (axial length <= 20mm) was found in the index patient and in her son. Hyperopia was found in all four examined patients. Closed angles/narrow angles were observed in patients with microphthalmos. The index patient developed ACG at the age of 12 years. Her son inherited microphthalmos, severe hyperopia, and narrow angles. He is at risk of developing ACG. No pathogenic mutation of the MITF or the CRX genes was detected in the index patient. Conclusions: BVMD could be associated with anterior segment abnormalities such as shallow anterior chambers, closed/narrow anterior chamber angles and ACG. Ophthalmologists should be aware of the association between ACG and BVMD. Examination of the anterior segment, gonioscopy and intraocular pressure control are recommended in patients with BVMD.
50.	Wittström, Elisabeth, et al. (författare) Electrophysiological evaluation and visual outcome in patients with central retinal vein occlusion, primary open-angle glaucoma and neovascular glaucoma. 2010 Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-3768 .- 1755-375X. ; 88, s. 86-90 Tidskriftsartikel (refereegranskat)abstract Purpose: To evaluate patients with central retinal vein occlusion (CRVO) and neovascular glaucoma (NVG) using electrophysiology in order to gain better understanding of visual outcome and risk factors, such as previously diagnosed primary open-angle glaucoma (POAG). Methods: Eighty-three patients (83 eyes) initially presenting with CRVO and examined with full-field electroretinography (ERG) within 3 months of the thrombotic event were analysed retrospectively regarding treatment, risk factors and visual outcome. In addition, 30 patients initially presenting with NVG caused by CRVO were also investigated regarding risk factors using electrophysiology in order to determine the cause of their visual impairment. Results: Nineteen (23%) of the 83 patients initially presenting with CRVO had been diagnosed previously with POAG. Ninety-five per cent (18/19) of all the patients with previously diagnosed glaucoma developed ischaemic CRVO. Thirty-four per cent of the patients initially presenting with CRVO (28/83) developed NVG. Sixty-eight per cent (13/19) of the patients with previous glaucoma developed NVG, compared to 23% (15/64) of the patients without previous POAG. In the patients who initially presented with NVG, full-field ERG demonstrated a remaining retinal function of both cones and rods, indicating that the main cause of visual impairment is ischaemia of the ganglion cell layer. Conclusion: Glaucoma is a significant risk factor for developing ischaemic CRVO and subsequent NVG. The presence of POAG in CRVO worsens visual outcome. NVG is associated with preserved photoreceptor function, thus indicating ischaemia of the ganglion cell layer as the primary cause of visual impairment. This emphasizes the importance of prompt treatment of ischaemia and elevated intraocular pressure in these patients.

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