| 1. |
- Areblom, Maria, et al.
(författare)
-
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing
- 2023
-
Ingår i: Genes. - 2073-4425. ; 14:7
-
Tidskriftsartikel (refereegranskat)abstract
- In the present era of evolving gene-based therapies for inherited retinal dystrophies (IRDs), it has become increasingly important to verify the genotype in every case, to identify all subjects eligible for treatment. Moreover, combined insight concerning phenotypes and genotypes is crucial for improved understanding of thevisual impairment, prognosis, and inheritance. The objective of this study was to investigate to what extent renewed comprehensive genetic testing of patients diagnosed with IRD but with previously inconclusive DNA test results can verify the genotype, if confirmation of the genotype has an impact on the understanding of the clinical picture, and, to describe the genetic spectrum encountered in a Swedish IRD cohort. The study included 279 patients from the retinitis pigmentosa research registry (comprising diagnosis within the whole IRD spectrum), hosted at the Department of Ophthalmology, Skåne University hospital, Sweden. The phenotypes had already been evaluated with electrophysiology and other clinical tests, e.g., visual acuity, Goldmann perimetry, and fundus imaging at the first visit, sometime between 1988–2015 and the previous—in many cases, multiple—genetic testing, performed between 1995 and 2020 had been inconclusive. All patients were aged 0–25 years at the time of their first visit. Renewed genetic testing was performed using a next generation sequencing (NGS) IRD panel including 322 genes (Blueprint Genetics). Class 5 and 4 variants, according to ACMG guidelines, were considered pathogenic. Of the 279 samples tested, a confirmed genotype was determined in 182 (65%). The cohort was genetically heterogenous, including 65 different genes. The most prevailing were ABCA4 (16.5%), RPGR (6%), CEP290 (6%), and RS1 (5.5%). Other prevalent genes were CACNA1F (3%), PROM1 (3%), CHM (3%), and NYX (3%). In 7% of the patients there was a discrepancy between the diagnosis made based on phenotypical or genotypical findings alone. To conclude, repeated DNA-analysis was beneficial also in previously tested patients and improved our ability to verify the genotype–phenotype association increasing the understanding of how visual impairment manifests, prognosis, and the inheritance pattern. Moreover, repeated testing using a widely available method could identify additional patients eligible for future gene-based therapies.
|
|
| 2. |
- 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.
|
|
| 3. |
|
|
| 4. |
- 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.
|
|
| 5. |
- 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.
|
|
| 6. |
- Gränse, Lotta
(författare)
-
Evaluation of the visual pathway with ERG, mfERG and mfVEP in inherited eye disorders
- 2006
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis will describe the clinical phenotypes, with emphasis on electrophysiology, in patients with different hereditary eye diseases and to further evaluate and modify the mfVEP technique for clinical use. Bothnia Dystrophy is a tapetoretinal disorder with a mutation in the RLBP1 gene. Early in the disease the fundus may have a normal appearance. The full-field ERG demonstrates an absence of the rod response but normal amplitudes for the cones. However, after prolonged dark adaptation the rods recover completely. MfERG can be used for objective documentation of the disturbed macular function. Patients with retinitis pigmentosa may not always follow the typical natural course of the disorder with progressive loss of the central visual fields, which may in some patients remain unaffected for several decades. MfERG and mfVEP may be of clinical use in evaluating remaining visual function in these patients. Patients with dominant optic atrophy and a known mutation in the OPA-1 gene have a very variable clinical phenotype. MfVEP and ocular blood flow measurements are two new methods for improved identification and characterization of this disorder. A patient with a known mutation for Leber`s hereditary optic neuropathy (LHON) was followed during the acute stage of the disease with mfVEP, demonstrating a correlation to the progression of the disease. The mfVEP may be of clinical value as an objective method for monitoring the course of this disease. MfVEP demonstrates the cortical response corresponding to the central visual field. An improvement for the clinical value of the method was the use of an IR-camera for both stimulation and for controlling the fixation. By introducing a two channel system it was possible to describe the uncrossed/crossed visual pathways and analyze inter-ocular differences.
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Hellström, Ann, 1959, et al.
(författare)
-
Association of Docosahexaenoic Acid and Arachidonic Acid Serum Levels With Retinopathy of Prematurity in Preterm Infants
- 2021
-
Ingår i: Jama Network Open. - : American Medical Association (AMA). - 2574-3805. ; 4:10
-
Tidskriftsartikel (refereegranskat)abstract
- IMPORTANCE Supplementing preterm infants with long-chain polyunsaturated fatty acids (LC-PUFA) has been inconsistent in reducing the severity and incidence of retinopathy of prematurity (ROP). Furthermore, few studies have measured the long-term serum lipid levels after supplementation. OBJECTIVE To assess whether ROP severity is associated with serum levels of LC-PUFA, especially docosahexaenoic acid (DHA) and arachidonic acid (AA), during the first 28 postnatal days. DESIGN, SETTING, AND PARTICIPANTS This cohort study analyzed the Mega Donna Mega study, a randomized clinical trial that provided enteral fatty acid supplementation at 3 neonatal intensive care units in Sweden. Infants included in this cohort study were born at a gestational age of less than 28 weeks between December 20, 2016, and August 6, 2019. MAIN OUTCOMES AND MEASURES Severity of ROP was classified as no ROP, mild or moderate ROP (stage 1-2), or severe ROP (stage 3 and type 1). Serum phospholipid fatty acids were measured through gas chromatography-mass spectrometry. Ordinal logistic regression, with a description of unadjusted odds ratio (OR) as well as gestational age- and birth weight-adjusted ORs and 95% CIs, was used. Areas under the curve were used to calculate mean daily levels of fatty acids during postnatal days 1 to 28. Blood samples were obtained at the postnatal ages of 1, 3, 7, 14, and 28 days. RESULTS A total of 175 infants were included in analysis. Of these infants, 99 were boys (56.6%); the median (IQR) gestational age was 25 weeks 5 days (24 weeks 3 days to 26 weeks 6 days), and the median (IQR) birth weight was 785 (650-945) grams. A higher DHA proportion was seen in infants with no ROP compared with those with mild or moderate ROP or severe ROP (OR per 0.5-molar percentage increase, 0.49 [95% CI, 0.36-0.68]; gestational age- and birth weight-adjusted OR, 0.66 [95% CI, 0.46-0.93]). The corresponding adjusted OR for AA levels per 1-molar percentage increase was 0.83 (95% CI, 0.66-1.05). The association between DHA levels and ROP severity appeared only in infants with sufficient AA levels, suggesting that a mean daily minimum level of 7.8 to 8.3 molar percentage of AA was necessary for a detectable association between DHA level and less severe ROP. CONCLUSIONS AND RELEVANCE This cohort study found that higher mean daily serum levels of DHA during the first 28 postnatal days were associated with less severe ROP even after adjustment for known risk factors, but only in infants with sufficiently high AA levels. Further studies are needed to identify LC-PUFA supplementation strategies that may prevent ROP and other morbidities.
|
|
| 11. |
- Hellström, Ann, 1959, et al.
(författare)
-
Retrospective evaluation of ophthalmological and neurological outcomes for infants born before 24 weeks gestational age in a Swedish cohort
- 2022
-
Ingår i: Bmj Open. - : BMJ. - 2044-6055. ; 12:8
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives To retrospectively evaluate ophthalmological and neurological outcomes in a Swedish cohort of infants born before 24 weeks gestational age (GA) and explore risk factors for visual impairment. Setting Eye and paediatric clinics in Sweden. Participants Infants screened for retinopathy of prematurity (ROP) (n=399), born before 24 weeks GA, 2007-2018. Cases were excluded if ophthalmological follow-up records could not be traced. Primary and secondary outcome measures Primary outcomes were ophthalmological, including visual acuity (VA), refractive error, strabismus, nystagmus and cerebral visual impairment (CVI). Secondary outcomes comprised neonatal and neurological morbidities. Data were retrospectively retrieved from medical records. Results The 355 assessed children had a median GA of 23 weeks and 2 days and a median birth weight of 565 g. At the last available ophthalmological examination, the median age was 4.8 years (range 0.5-13.2 years). Nystagmus was recorded in 21.1%, strabismus in 34.8%, and 51.0% wore spectacles. Seventy-three of 333 (21.9%) were visually impaired, defined as being referred to a low vision clinic and/or having a VA less than 20/60 at 3.5 years of age or older. ROP treatment was a significant risk factor for visual impairment (OR 2.244, p=0.003). Visually impaired children, compared with children without visual impairment, more often had neurological deficits such as intellectual disability 63.8% versus 33.3% (p<0.001), epilepsy 21.1% versus 7.5% (p=0.001) and autism spectrum disorders 32.8% versus 20.9% (p=0.043). Nine of the 355 children had been diagnosed with CVI. Conclusions Children born before 24 weeks GA frequently had visual impairment in association with neurological deficits. CVI was rarely diagnosed. A multidisciplinary approach for the evaluation and habilitation of these vulnerable infants is warranted. National follow-up guidelines need to be developed and implemented.
|
|
| 12. |
- Hellström, William, et al.
(författare)
-
Low fraction of fetal haemoglobin is associated with retinopathy of prematurity in the very preterm infant
- 2022
-
Ingår i: British Journal of Ophthalmology. - : BMJ. - 0007-1161 .- 1468-2079. ; 106, s. 970-974
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Blood loss and adult blood transfusions are common during the neonatal period in preterm infants. The objective of the study was to clarify if degree of loss of fetal haemoglobin (HbF) was associated with later retinopathy of prematurity (ROP). Methods: Retrospective observational cohort study. In total, 452 infants born <30 gestational weeks at a tertiary level neonatal intensive care unit in Sweden in 2009-2015 were included, 385 of whom had final ROP outcome. Mean fractions of HbF (%) during the first postnatal week were calculated from 11 861 arterial blood gas analyses. The relationship between fractions of HbF (%) and ROP was evaluated. Results: The mean (SD) gestational age (GA) at birth was 26.4 (1.8) weeks. In total, 104 (27 %) infants developed ROP. Higher fraction of HbF (%) was associated with a lower prevalence of ROP, OR by a 10% increase 0.83 (95% CI: 0.71 to 0.97; p=0.019), following adjustment for GA at birth, small for GA and sex. Infants with HbF (%) in the lowest quartile had OR of 22.0 (95% CI: 8.1 to 59.2; p<0.001) for ROP development compared with those in the highest quartile. The predictive ability (area under the curve) of HbF (%) in the full model during the first week was 0.849 for ROP. Conclusions: Early low fraction of HbF is independently associated with abnormal retinal neurovascular development in the very preterm infant. The potential benefit of minimising blood loss on development of ROP will be investigated in a multicenter randomised trial (NCT04239690). © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
|
|
| 13. |
- Holmstrom, Gerd, et al.
(författare)
-
Treatment for retinopathy of prematurity in Sweden 2008-2021: Reduced gestational age of treated infants and remaining differences in treatment type and recurrence rates between hospitals
- 2024
-
Ingår i: ACTA OPHTHALMOLOGICA. - : John Wiley & Sons. - 1755-375X .- 1755-3768. ; 102:4, s. 401-408
-
Tidskriftsartikel (refereegranskat)abstract
- PurposeThis study aimed to investigate various aspects of treatment for retinopathy of prematurity (ROP) in Sweden over the past 14 years, nationally and at a hospital level.MethodsData on screening and treatment for ROP in infants born in Sweden from 2008 to 2021 were extracted from the national ROP register, SWEDROP. During this period, Swedish screening guidelines were reduced from gestational age (GA) < 32 weeks to <31 weeks in 2012 and to <30 weeks in 2020.ResultsAltogether, 10 959 infants were screened and 600 infants treated for ROP during the study period. Parallel to changed guidelines, the number of screened infants decreased (p < 0.000) and the incidence of ROP and frequency of treatment increased (p < 0.001), while both remained similar in infants with a GA below 30 weeks. Among treated infants, GA and BW were reduced over the years (p < 0.001). Laser treatment (85.2% of primary treatments) became less common and anti-VEGF injections (13.6%) became more common over time (p < 0.001). Altogether 16 eyes were treated with the encircling band and 13 with vitrectomy. The total frequency of retreatment (32.7% of treated eyes) remained similar over time but was more common after primary anti-VEGF injection (67.7%) than laser treatment (27.2%). There were differences between the seven university hospitals regarding type of treatment and number of retreatments (p < 0.001).ConclusionThe frequency of treatment and retreatment for ROP remained similar over time, but the type of treatment changed and anti-VEGF injections became more common. Differences between treating hospitals emphasize the importance of centralizing the most severe cases.
|
|
| 14. |
- Holmström, Gerd, 1951-, et al.
(författare)
-
New modifications of Swedish ROP guidelines based on 10-year data from the SWEDROP register
- 2020
-
Ingår i: British Journal of Ophthalmology. - : BMJ. - 0007-1161 .- 1468-2079. ; 104:7, s. 943-949
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND/AIMS:During the last decade, improved neonatal care has resulted in increased survival of the most immature infants and improved health of more mature infants. We hypothesise that this has affected incidence and treatment of retinopathy of prematurity (ROP), enabling guidelines for screening to be modified.METHODS: In Sweden, all infants with gestational age (GA) at birth ≤30 weeks are screened for ROP. Results are registered in a web-based register, Swedish National ROP Register, with a coverage rate of 97%. Incidence of ROP and frequency of treatment, aspects on natural course of ROP and number of examinations, are calculated in relation to GA at birth in infants born during 2008-2017.RESULTS: Of 7249 infants, 31.9% (2310) had ROP and 6.1% (440) were treated. No infant with GA 30 weeks was treated. Incidence of ROP remained similar, but frequency of treatment increased (p=0.023). Over time, GA and birth weight were reduced in infants with ROP and with treated ROP. In the most immature infants, postmenstrual age was lower and postnatal age was higher when any ROP and stage 3 ROP were first detected (p<0.001). At treatment, postmenstrual but not postnatal age of the infant was associated with GA (p<0.001). During the 10-year period, 46 038 examinations were performed.CONCLUSION: Modification of Swedish guidelines is proposed, including only infants with a GA of <30 weeks and postponing the first examination with 1 week in infants with GA 26-29 weeks. This would spare many infants from stressful examinations and reduce eye examinations with at least 20%.
|
|
| 15. |
- 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.
|
|
| 16. |
- Larsson, Eva, 1961-, et al.
(författare)
-
Ophthalmological outcome of 6.5 years children treated for retinopathy of prematurity: a Swedish register study
- 2024
-
Ingår i: British Journal of Ophthalmology. - : BMJ. - 0007-1161 .- 1468-2079. ; 108:1, s. 137-142
-
Tidskriftsartikel (refereegranskat)abstract
- AimsTo determine the ophthalmological outcome at 6.5 years of age in children treated for retinopathy of prematurity (ROP), and registered in the national Swedish National Register for ROP register. MethodsData on ROP, treatment and ophthalmological outcome were retrieved from the register. Visual acuity (VA), refractive errors and strabismus, together with visual impairment (VI) and any significant eye problem, defined as VA >0.5 logarithm of the minimal angle of resolution (logMAR) and/or strabismus and/or any refractive error were analysed. Risk factors such as sex, gestational age (GA), birth weight SD score, number of treatments and retreatments, postnatal age and postmenstrual age at first treatment were analysed. ResultsFollow-up data were available in 232 of 270 children born between 2007 and 2014 who had been treated for ROP. VI (VA >0.5 logMAR) was found in 32 (14%), strabismus in 82 (38%), refractive errors in 114 (52%) and significant eye problem in 143 (65%) children. Retreatment was a risk factor for VI and refractive errors. Male sex and neonatal brain lesion were risk factors for strabismus. An additional week of GA at birth reduced the risk for refractive errors, strabismus and significant eye problems. ConclusionThe results of the present study revealed a high number of eye problems in children treated for ROP, emphasising the need for long-term follow-up. Retreatment of ROP was a risk factor for VI, and emphasises the importance of an accurate first treatment for the long-term ophthalmological outcome.
|
|
| 17. |
- Lundgren, Pia, et al.
(författare)
-
High rate and large intercentre variability in retreatment of retinopathy of prematurity in infants born < 24 gestational weeks
- 2021
-
Ingår i: BMJ Open Ophthalmology. - : BMJ Publishing Group Ltd. - 2397-3269. ; 6:1
-
Tidskriftsartikel (refereegranskat)abstract
- Objective Prematurity is a major risk factor for retinopathy of prematurity (ROP). We aimed to elucidate ROP prevalence, treatment and retreatment in infants born before 24 gestational age (GA) weeks in a Swedish cohort. Methods and analysis Infants with completed ROP screening, born at <24 GA weeks, 2007-2018 in Sweden were included. Data of GA, birth weight (BW), sex, neonatal morbidities, maximal ROP stage, aggressive posterior ROP (APROP), ROP treatments, treatment modality and treatment centre were retrieved. Results In total, 399 infants, with a mean GA of 23.2 weeks (range 21.9-23.9) and a mean BW of 567 g (range 340-874), were included. ROP was detected in 365 (91.5%) infants, 173 (43.4%) were treated for ROP and 68 of 173 (39.3%) were treated more than once. As the first treatment, 142 (82.0%) received laser and 29 (16.1%) received intravitreal injection of antivascular endothelial growth factor (anti-VEGF). Retreatment was performed after first laser in 46 of 142 (32.4%) and in 20 of 29 (69.0%) after first anti-VEGF treatment. Retreatment rate was not associated with GA, BW or sex but with APROP, treatment method (anti-VEGF) and treatment centre where the laser was performed (p<0.001). Twenty eyes progressed to retinal detachment, and two infants developed unilateral endophthalmitis after anti-VEGF treatment. Conclusion Infants, born at <24 weeks GA, had high rates of treatment-warranting ROP and retreatments. Treatment centre highly influenced the retreatment rate after laser indicating that laser treatment could be improved in some settings.
|
|
| 18. |
- Lundgren, Pia, 1967, et al.
(författare)
-
Visual outcome at 2.5 years of age in ω-3 and ω-6 long-chain polyunsaturated fatty acid supplemented preterm infants: a follow-up of a randomized controlled trial
- 2023
-
Ingår i: Lancet Regional Health-Europe. - 2666-7762. ; 32
-
Tidskriftsartikel (refereegranskat)abstract
- Background We investigated ophthalmological outcomes at 2.5 years of corrected age in children born extremely preterm (EPT) to evaluate the effects of postnatal enteral supplementation with omega-3 and omega-6 long-chain polyunsaturated fatty acids.Methods In the Mega Donna Mega clinical trial, EPT infants born at less than 28 weeks of gestation were randomized to receive an enteral supplementation of docosahexaenoic acid (DHA) and arachidonic acid (AA) from birth to 40 weeks postmenstrual age. In this exploratory follow-up at 2.5 years of corrected age, we assessed visual acuity (VA), refraction, manifest strabismus, and nystagmus. Satisfactory VA was defined as >= 20/63. Multiple imputation (MI) was used to address the issue of missing data.Findings Of 178 children in the trial, 115 (with median gestational age (GA) of 25 + 4/7 weeks and median birth weights of 790 g) were ophthalmologically assessed at a median corrected age of 2.7 years (range 2.0-3.9 years). VA assessment was missing in 42.1% (75/178), in 41.7% (35/84) of the AA/DHA supplemented infants, and in 42.6% (40/94) of the control infants. After MI and adjustments for GA, study center, plurality, and corrected age at VA exam, no significant effect of AA/DHA supplementation was detected in VA outcome (>= 20/63) (odds ratio 2.16, confidence interval 95% 0.99-4.69, p = 0.053).Interpretation In this randomized controlled trial follow-up, postnatal supplementation with enteral AA/DHA to EPT children did not significantly alter VA at 2.5 years of corrected age. Due to the high loss to follow-up rate and the limited statistical power, additional studies are needed.
|
|
| 19. |
- Lövestam Adrian, Monica, et al.
(författare)
-
Multifocal Visual Evoked Potentials (mfVEP) in Diabetic Patients with and without Polyneuropathy.
- 2012
-
Ingår i: Open Ophthalmology Journal. - : Bentham Science Publishers Ltd.. - 1874-3641. ; 6, s. 98-103
-
Tidskriftsartikel (refereegranskat)abstract
- Previously not shown this study support that mfVEP is an indicator of optic nerve neuropathy in diabetic patients and there could be a correlation between the optic nerve dysfunction and diabetic poly neuropathy. The early optic nerve involvement might explain some of the visual complain in this group of diabetic patients.
|
|
| 20. |
- Nilsson, Maria, et al.
(författare)
-
Case report : Bilateral damage to the immature optic radiation and secondary massive loss of retinal ganglion cells causing tunnel vision
- 2023
-
Ingår i: Frontiers in Neuroscience. - 1662-4548. ; 17
-
Tidskriftsartikel (refereegranskat)abstract
- We describe the case of a 30-year-old woman, who needed a formal report on her visual impairment to seek support from society. She was born preterm, and during her neonatal period, she suffered from bilateral intraventricular hemorrhage (IVH) grade 3, a condition that can cause cerebral visual impairment (CVI) due to damage to the retro-geniculate visual pathways. Individuals with such brain damage of this severity are often restricted by cerebral palsy (CP) and intellectual disability, and thus have a limited ability to cooperate in the assessment of visual function. However, our patient was capable of providing reliable test results, and she manifested only a small island of central vision in each eye, with additional reduced visual acuities. She cooperated well in examinations involving MRI of the brain, optical coherence tomography (OCT) of retinal ganglion cells, and multi-focal visual evoked potentials, with each test providing information about potential limitations in the structural prerequisites for visual function. What distinguishes our case is the severity of the damage to the optic radiations and the massive secondary loss of most of her retinal ganglion cells (GCs). However, there is some measurable visual function, which may be due to developmental neuroplasticity during early development, when surviving GCs prioritize the central visual field. Despite her visual difficulties, she is a keen portrait painter. Our patient may be representative of, and a spokesperson for, other individuals with extensive brain damage of the same etiology, who are unable to perform perimetric tests and therefore run the risk of not being recognized as severely visually impaired, and consequently, not being given the best conditions for habilitation. OCT may serve as a helpful diagnostic tool. Aim: This study aims to describe visual behavior and practical applications of visual function in relation to structural prerequisites for visual function.
|
|
| 21. |
- Pearson, Kevin, et al.
(författare)
-
Childhood tuberous sclerosis complex in southern Sweden: A paradigm shift in diagnosis and treatment.
- 2023
-
Ingår i: BMC Pediatrics. - 1471-2431. ; 23:1
-
Tidskriftsartikel (refereegranskat)abstract
- AimTo investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time.MethodsIn this retrospective observational study, 52 individuals aged up to 18 years at the study start were followed-up at regional hospitals and centres for habilitation from 2000 to 2020.ResultsCardiac rhabdomyoma was detected prenatally/neonatally in 69.2% of the subjects born during the latest ten years of the study period. Epilepsy was diagnosed in 82.7% of subjects, and 10 (19%) were treated with everolimus, mainly (80%) for a neurological indication. Renal cysts were detected in 53%, angiomyolipomas in 47%, astrocytic hamartomas in 28% of the individuals. There was a paucity of standardized follow-up of cardiac, renal, and ophthalmological manifestations and no structured transition to adult care.ConclusionOur in-depth analysis shows a clear shift towards an earlier diagnosis of tuberous sclerosis complex in the latter part of the study period, where more than 60% of cases showed evidence of this condition already in utero due to the presence of a cardiac rhabdomyoma. This allows for preventive treatment of epilepsy with vigabatrin and early intervention with everolimus for potential mitigation of other symptoms of tuberous sclerosis complex.
|
|
| 22. |
- Pivodic, Aldina, 1978, et al.
(författare)
-
Development and validation of a new clinical decision support tool to optimize screening for retinopathy of prematurity
- 2022
-
Ingår i: British Journal of Ophthalmology. - : BMJ Publishing Group Ltd. - 0007-1161 .- 1468-2079. ; 106:11, s. 1573-1580
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND/AIMS: Prematurely born infants undergo costly, stressful eye examinations to uncover the small fraction with retinopathy of prematurity (ROP) that needs treatment to prevent blindness. The aim was to develop a prediction tool (DIGIROP-Screen) with 100% sensitivity and high specificity to safely reduce screening of those infants not needing treatment. DIGIROP-Screen was compared with four other ROP models based on longitudinal weights.METHODS: Data, including infants born at 24-30 weeks of gestational age (GA), for DIGIROP-Screen development (DevGroup, N=6991) originate from the Swedish National Registry for ROP. Three international cohorts comprised the external validation groups (ValGroups, N=1241). Multivariable logistic regressions, over postnatal ages (PNAs) 6-14 weeks, were validated. Predictors were birth characteristics, status and age at first diagnosed ROP and essential interactions.RESULTS: ROP treatment was required in 287 (4.1%)/6991 infants in DevGroup and 49 (3.9%)/1241 in ValGroups. To allow 100% sensitivity in DevGroup, specificity at birth was 53.1% and cumulatively 60.5% at PNA 8 weeks. Applying the same cut-offs in ValGroups, specificities were similar (46.3% and 53.5%). One infant with severe malformations in ValGroups was incorrectly classified as not needing screening. For all other infants, at PNA 6-14 weeks, sensitivity was 100%. In other published models, sensitivity ranged from 88.5% to 100% and specificity ranged from 9.6% to 45.2%.CONCLUSIONS: DIGIROP-Screen, a clinical decision support tool using readily available birth and ROP screening data for infants born GA 24-30 weeks, in the European and North American populations tested can safely identify infants not needing ROP screening. DIGIROP-Screen had equal or higher sensitivity and specificity compared with other models. DIGIROP-Screen should be tested in any new cohort for validation and if not validated it can be modified using the same statistical approaches applied to a specific clinical setting.
|
|
| 23. |
- Pivodic, Aldina, et al.
(författare)
-
Prognostic Value of Parenteral Nutrition Duration on Risk of Retinopathy of Prematurity
- 2023
-
Ingår i: JAMA ophthalmology. - : American Medical Association (AMA). - 2168-6165 .- 2168-6173. ; 141:8, s. 716-716
-
Tidskriftsartikel (refereegranskat)abstract
- Importance The prognostic impact of parenteral nutrition duration (PND) on retinopathy of prematurity (ROP) is not well studied. Safe prediction models can help optimize ROP screening by effectively discriminating high-risk from low-risk infants.Objective To evaluate the prognostic value of PND on ROP; to update and validate the Digital ROP (DIGIROP) 2.0 birth into prescreen and screen prediction models to include all ROP-screened infants regardless of gestational age (GA) and incorporate PND; and to compare the DIGIROP model with the Weight, IGF-1, Neonatal, and ROP (WINROP) and Postnatal Growth and ROP (G-ROP) models.Design, Setting, and Participants This retrospective study included 11 139 prematurely born infants from 2007 to 2020 from the Swedish National Registry for ROP. Extended Poisson and logistic models were applied. Data were analyzed from August 2022 to February 2023.Main Outcomes and Measures Any ROP and ROP requiring treatment were studied in relation to PND. ROP treatment was the outcome in DIGIROP models. Sensitivity, specificity, area under the receiver operating characteristic curve, and adjusted OR (aOR) with 95% CI were the main measures. Internal and external validations were performed.Results Of 11 139 screened infants, 5071 (45.5%) were girls, and the mean (SD) gestational age was 28.5 (2.4) weeks. ROP developed in 3179 infants (29%), treatment was given in 599 (5%), 7228 (65%) had PND less than 14 days, 2308 (21%) had PND for 14 days or more, and 1603 (14%) had unknown PND. PND was significantly correlated with ROP severity (Spearman r = 0.45; P < .001). Infants with 14 days or more of PND vs less than 14 days had faster progression from any ROP to ROP treatment (adjusted mean difference, −0.9 weeks; 95% CI, −1.5 to −0.3; P = .004). Infants with PND for 14 days or more vs less than 14 days had higher odds of any ROP (aOR, 1.84; 95% CI, 1.62-2.10; P < .001) and of severe ROP requiring treatment (aOR, 2.20; 95% CI, 1.73-2.80; P < .001). Among all 11 139 infants, the DIGIROP 2.0 models had 100% sensitivity (95% CI, 99.4-100). The specificity was 46.6% (95% CI, 45.6-47.5) for the prescreen model and 76.9% (95% CI, 76.1-77.7) for the screen model. G-ROP as well as the DIGIROP 2.0 prescreen and screen models showed 100% sensitivity on a validation subset (G-ROP: sensitivity, 100%; 95% CI, 93-100; DIGIROP prescreen: sensitivity, 100%; 95% CI, 93-100; DIGIROP screen: sensitivity, 100%; 95% CI, 93-100), whereas WINROP showed 89% sensitivity (95% CI, 77-96). Specificity for each prediction model was 29% (95% CI, 22-36) for G-ROP, 38% (95% CI, 32-46) for DIGIROP prescreen, 53% (95% CI, 46-60) for DIGIROP screen at 10 weeks, and 46% (95% CI, 39-53) for WINROP.Conclusion and Relevance Based on more than 11 000 ROP-screened infants born in Sweden, PND of 14 days or more corresponded to a significantly higher risk of having any ROP and receiving ROP treatment. These findings provide evidence to support consideration of using the updated DIGIROP 2.0 models instead of the WINROP or G-ROP models in the management of ROP.
|
|
| 24. |
- Pivodic, Aldina, 1978, et al.
(författare)
-
Prognostic Value of Parenteral Nutrition Duration on Risk of Retinopathy of Prematurity Development and Validation of the Revised DIGIROP Clinical Decision Support Tool
- 2023
-
Ingår i: JAMA ophthalmology. - : AMER MEDICAL ASSOC. - 2168-6165 .- 2168-6173. ; 141:8, s. 716-724
-
Tidskriftsartikel (refereegranskat)abstract
- IMPORTANCE The prognostic impact of parenteral nutrition duration (PND) on retinopathy of prematurity (ROP) is not well studied. Safe prediction models can help optimize ROP screening by effectively discriminating high-risk from low-risk infants. OBJECTIVE To evaluate the prognostic value of PND on ROP; to update and validate the Digital ROP (DIGIROP) 2.0 birth into prescreen and screen prediction models to include all ROP-screened infants regardless of gestational age (GA) and incorporate PND; and to compare the DIGIROP model with the Weight, IGF-1, Neonatal, and ROP (WINROP) and Postnatal Growth and ROP (G-ROP) models. DESIGN, SETTING, AND PARTICIPANTS This retrospective study included 11 139 prematurely born infants from 2007 to 2020 from the Swedish National Registry for ROP. Extended Poisson and logistic models were applied. Data were analyzed from August 2022 to February 2023. MAIN OUTCOMES AND MEASURES Any ROP and ROP requiring treatment were studied in relation to PND. ROP treatment was the outcome in DIGIROP models. Sensitivity, specificity, area under the receiver operating characteristic curve, and adjusted OR (aOR) with 95% CI were the main measures. Internal and external validations were performed. RESULTS Of 11 139 screened infants, 5071 (45.5%) were girls, and the mean (SD) gestational age was 28.5 (2.4) weeks. ROP developed in 3179 infants (29%), treatment was given in 599 (5%), 7228 (65%) had PND less than 14 days, 2308 (21%) had PND for 14 days or more, and 1603 (14%) had unknown PND. PND was significantly correlated with ROP severity (Spearman r = 0.45; P < .001). Infants with 14 days or more of PND vs less than 14 days had faster progression from any ROP to ROP treatment (adjusted mean difference, -0.9 weeks; 95% CI, -1.5 to -0.3; P = .004). Infants with PND for 14 days or more vs less than 14 days had higher odds of any ROP (aOR, 1.84; 95% CI, 1.62-2.10; P < .001) and of severe ROP requiring treatment (aOR, 2.20; 95% CI, 1.73-2.80; P < .001). Among all 11 139 infants, the DIGIROP 2.0 models had 100% sensitivity (95% CI, 99.4-100). The specificity was 46.6%(95% CI, 45.6-47.5) for the prescreen model and 76.9%(95% CI, 76.1-77.7) for the screen model. G-ROP as well as the DIGIROP 2.0 prescreen and screen models showed 100% sensitivity on a validation subset (G-ROP: sensitivity, 100%; 95% CI, 93-100; DIGIROP prescreen: sensitivity, 100%; 95% CI, 93-100; DIGIROP screen: sensitivity, 100%; 95% CI, 93-100), whereas WINROP showed 89% sensitivity (95% CI, 77-96). Specificity for each prediction model was 29% (95% CI, 22-36) for G-ROP, 38%(95% CI, 32-46) for DIGIROP prescreen, 53%(95% CI, 46-60) for DIGIROP screen at 10 weeks, and 46%(95% CI, 39-53) for WINROP. CONCLUSION AND RELEVANCE Based on more than 11 000 ROP-screened infants born in Sweden, PND of 14 days or more corresponded to a significantly higher risk of having any ROP and receiving ROP treatment. These findings provide evidence to support consideration of using the updated DIGIROP 2.0 models instead of the WINROP or G-ROP models in the management of ROP.
|
|
| 25. |
- Pivodic, Aldina, 1978, et al.
(författare)
-
Validation of DIGIROP models and decision support tool for prediction of treatment for retinopathy of prematurity on a contemporary Swedish cohort
- 2023
-
Ingår i: British Journal of Ophthalmology. - : BMJ. - 0007-1161 .- 1468-2079. ; 107:8, s. 1132-1138
-
Tidskriftsartikel (refereegranskat)abstract
- Background/Aims Retinopathy of prematurity (ROP) is currently diagnosed through repeated eye examinations to find the low percentage of infants that fulfil treatment criteria to reduce vision loss. A prediction model for severe ROP requiring treatment that might sensitively and specifically identify infants that develop severe ROP, DIGIROP-Birth, was developed using birth characteristics. DIGIROP-Screen additionally incorporates first signs of ROP in different models over time. The aim was to validate DIGIROP-Birth, DIGIROP-Screen and their decision support tool on a contemporary Swedish cohort. Methods Data were retrieved from the Swedish national registry for ROP (2018-2019) and two Swedish regions (2020), including 1082 infants born at gestational age (GA) 24 to <31 weeks. The predictors were GA at birth, sex, standardised birth weight and age at the first sign of ROP. The outcome was ROP treatment. Sensitivity, specificity and area under the receiver operating characteristic curve (AUC) with 95% CI were described. Results For DIGIROP-Birth, the AUC was 0.93 (95% CI 0.90 to 0.95); for DIGIROP-Screen, it ranged between 0.93 and 0.97. The specificity was 49.9% (95% CI 46.7 to 53.0) and the sensitivity was 96.5% (95% CI 87.9 to 99.6) for the tool applied at birth. For DIGIROP-Screen, the cumulative specificity ranged between 50.0% and 78.7%. One infant with Beckwith-Wiedemann syndrome who fulfilled criteria for ROP treatment and had no missed/incomplete examinations was incorrectly flagged as not needing screening. Conclusions DIGIROP-Birth and DIGIROP-Screen showed high predictive ability in a contemporary Swedish cohort. At birth, 50% of the infants born at 24 to <31 weeks of gestation were predicted to have low risk of severe ROP and could potentially be released from ROP screening examinations. All routinely screened treated infants, excluding those screened for clinical indications of severe illness, were correctly flagged as needing ROP screening.
|
|
| 26. |
- 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.
|
|
| 27. |
- 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.
|
|
| 28. |
- 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.
|
|
| 29. |
- Schroeder, Marion, et al.
(författare)
-
A novel phenotype associated with the R162W variant in the KCNJ13 gene
- 2022
-
Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1381-6810 .- 1744-5094. ; 43:4, s. 500-507
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Pathogenic variants in KCNJ13 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital amaurosis. SVD is characterized by aberrant vitreoretinal interface leading to increased risk of retinal detachment, crystalline retinal snowflake deposits, optic disc abnormalities, early-onset cataract, and cornea guttae. Reduced dark adaptation and reduced scotopic rod b-waves have also been described. We report a novel phenotype associated with the R162W variant in KCNJ13. Methods: Four affected members of a Swedish family were included. Three of them were examined with best corrected visual acuity, Goldmann perimetry, full-field—and multifocal electroretinography, optical coherence tomography, fundus color photographs, fundus autofluorescence images, slit lamp inspection, and genetic testing. The fourth subject only managed genetic testing. Results: All subjects carry the pathogenic missense variant; c.484C>T (NM_002242.4), R162W, in KCNJ13. ERG measurements revealed reduced macular—as well as general retinal function. Two of the subjects had a history of retinal detachment and the two younger subjects demonstrated early onset cataract. They all had structural macular changes and slightly gliotic optic discs. Conclusion: In this family, the R162W variant in KCNJ13, previously described in association with SVD, causes a somewhat novel phenotype including macular dystrophy and moderate reduction of general retinal function as the main features combined with disc abnormalities, retinal detachment, and presenile cataract that has been described before. In times of up-coming gene-based therapies, it is important to report new genotype—phenotype associations to improve the possibilities to identify future treatment candidates.
|
|
| 30. |
- Öhnell, Hanna Maria, et al.
(författare)
-
Dexamethasone eye-drops for treatment of retinopathy of prematurity
- 2022
-
Ingår i: Ophthalmology Retina. - : Elsevier BV. - 2468-6530. ; 6:2, s. 181-182
-
Tidskriftsartikel (refereegranskat)abstract
- Both studies on animals and humans have demonstrated the role of inflammatory mediators on the retinopathy process.2,3 Dexamethasone is a glucocorticoid with a known reductive effect on several of these mediators and on the expression of VEGF.4Starting in 2016, infants receiving laser ablation for type 1 ROP at Skåne University Hospital were administered dexamethasone eye-drops postoperatively, usually three times daily. None of the infants receiving postoperative topical steroids needed retreatment, in comparison to a general retreatment frequency of 26% nationally when postoperative dexamethasone wasn’t administered routinely.5 During 2018 and 2019, two premature infants started the dexamethasone regimen before the planned laser treatment could be performed and in one the laser could be postponed, in the other the laser treatment was cancelled. Successively, several other infants with type 2 ROP that were considered at very high risk of requiring laser ablation were administered dexamethasone drops preoperatively and the regression of ROP changes were observed on multiple occasions. Consequently, for infants with type 2 ROP born in 2020, all were administered dexamethasone drops before the laser treatment, but usually in a lower dosage of one drop daily.We therefore aim to compare the treatment frequency for screened infants in the southern healthcare region of Sweden born during 2016 through 2020 to make a systematic retrospective analysis to compare dexamethasone treated and untreated infants.The retrospective study was carried through in accordance with the declaration of Helsinki and received ethical approval from the Swedish ethical board. The study followed the Strengthening and Reporting of Observational Studies in Epidemiology (STROBE) reporting guideline for cohort studies.
|
|
| 31. |
- Öhnell, Hanna Maria, et al.
(författare)
-
Ophthalmic manifestations in children with tuberous sclerosis complex
-
Ingår i: Acta Ophthalmologica. - 1755-375X.
-
Tidskriftsartikel (refereegranskat)abstract
- Purpose: To report on the ophthalmic findings in children with tuberous sclerosis complex (TSC) in southern Sweden, and to investigate the frequency of refractive errors, strabismus and cerebral visual impairment associated with this condition. Methods: This was a retrospective cohort study including all paediatric patients with TSC in southern Sweden born between 1983 and 2020. Medical records were reviewed regarding retinal findings, visual acuity, refractive error, strabismus, full-field electroretinography results and cerebral visual impairment. Results: Ophthalmological records were available for 50 of the 52 children in the region diagnosed with TSC. The mean age at the last visit was 12.4 (SD 7.2) years. Monocular visual acuity had been measured in 38 patients, and the median value did not deviate from that expected for their age in the better eye, but by −0.2 Snellen decimal acuity in the worse eye. Refractive errors were found in 62% of the patients, and strabismus in 16%. Retinal astrocytic hamartomas were found in 34% and achromatic patches in 34%. Ten of the patients on medication with vigabatrin were examined with full-field electroretinography and treatment had to be stopped or lowered in three (30%), due to a reduced response. Investigation of cerebral visual impairment had not been conducted in any of the children. Conclusion: Refractive errors and strabismus were common among children with TSC. None of the patients in this cohort had undergone investigation for cerebral visual impairment. The general awareness of cerebral visual impairment among ophthalmologists is poor and constitutes an important area for improvement.
|
|
