| 1. |
- Andréasson, Sten, et al.
(författare)
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Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes
- 2003
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Ingår i: Ophthalmic Genetics. - : Swets & Zeitlinger Publishers. - 1381-6810 .- 1744-5094. ; 24:4, s. 215-223
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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.
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| 2. |
- Bourghardt Peebo, Beatrice, et al.
(författare)
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Relapsing polychondritis : A rare disease with varying symptoms
- 2004
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Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907 .- 1600-0420. ; 82:4, s. 472-475
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Relapsing polychondritis (RPC) is a rare systemic disease affecting primarily cartilaginous and proteoglycan-rich structures. It is a potentially fatal disease with unknown aetiology. There are no specific tests for RPC. The diagnosis is dependant on clinical criteria, which include chondritis of both auricles, non-erosive inflammatory polyarthritis, nasal chondritis, ocular inflammation, respiratory tract chondritis and cochlear and/or vestibular damage. Ocular symptoms will occur in approximately 60% of RPC patients. As an example, a patient with signs of RPC is described. Methods/Result: A 30-year-old woman was referred to our department for evaluation of a central corneal ulcer in the left eye. She had a history of recurrent pain in both her auricles and was also found to have a nasal septum perforation. Relapsing polychondritis was suspected. Conclusion: Non-healing corneal ulcers should alert the ophthalmologist to look for unusual reasons for this condition. RPC is one possible cause.
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| 3. |
- Chong, Victor N H, et al.
(författare)
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Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to the distribution of lesions associated with age-related macular degeneration
- 2005
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Ingår i: American Journal of Pathology. - 0002-9440 .- 1525-2191. ; 166:1, s. 241-251
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Tidskriftsartikel (refereegranskat)abstract
- Age-related macular degeneration (AMD) is a leading cause of blindness in the elderly. In its severest form, choroidal neovessels breach the macular Bruch's membrane, an extracellular matrix compartment comprised of elastin and collagen laminae, and grow into the retina. We sought to determine whether structural properties of the elastic lamina (EL) correspond to the region of the macula that is predilected toward degeneration in AMD. Morphometric assessment of the macular and extramacular regions of 121 human donor eyes, with and without AMD, revealed a statistically significant difference in both the integrity (P < 0.0001) and thickness (P < 0.0001) of the EL between the macular and extramacular regions in donors of all ages. The EL was three to six times thinner and two to five times less abundant in the macula than in the periphery. The integrity of the macular EL was significantly lower in donors with early-stage AMD (P = 0.028), active choroidal neovascularization (P = 0.020), and disciform scars (P = 0.003), as compared to unaffected, age-matched controls. EL thickness was significantly lower only in individuals with disciform scars (P = 0.008). The largest gaps in macular EL integrity were significantly larger in all categories of AMD (each P < 0.0001), as compared to controls. EL integrity, thickness, and gap length in donors with geographic atrophy did not differ from those of controls. These structural properties of the macular EL correspond spatially to the distribution of macular lesions associated with AMD and may help to explain why the macula is more susceptible to degenerative events that occur in this disease.
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| 4. |
- Frennesson, Christina, 1949-
(författare)
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Age-related maculopathy and macular degeneration : New diagnostic and therapeutic procedures
- 1996
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Age-related maculopathy (ARM) may progress into age-related macular degeneration (AMD), which is often disastrous to near vision and reading. Currently used treatment is generally not successful in a long-term perspective. Therefore, searching for an early detection of functional disturbances as well as for prophylactic treatment appears important.Colour contrast sensitivity was measured in patients with soft drusen maculopathy (early ARM). No deterioration in visual function was observed with conventional tests. A highly significant elevation (p<0.001-0.0001) of thresholds for all three colour axes was found, indicating an impairment of retinal function. A tendency towards a bimodal distribution was seen, suggesting a subgroup with a more prominent decrease in foveal sensitivity and possibly at higher risk of progression into the exudative form of the disease. Colour contrast sensitivity appears to be a more sensitive measure of early functional disturbances of the retina than provided by the currently used tests.Contrast sensitivity was measured peripheral to an absolute central scotoma in patients with AMD and was found to be significantly lower (p<0.001) than In normals at the same degree of eccentricity. This finding may explain the variations in the need for magnification in low vision patients with identical visual acuity for achieving the same visual performance.A new system for evaluating paramacular function and establishing the most suitable area for eccentric viewing was designed. The method facilitates the procedure of teaching and training the patient to use the eccentric viewing technique successfully. Reading speed increased significantly (pIn a prospective, randomised study, patients with early ARM were treated with green argon laser photocoagulation perifoveally over the drusen area. Parameters such as visual acuity, colour contrast sensitivity and central visual field were unchanged at the 12-month follow-up. The total drusen area decreased significantly (p<0.0001) after laser photocoagulation over a period of 12 mOnths. No complications were noticed. In a matched control group, the area of drusen tended to increase, and there was a significant difference {p
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| 5. |
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| 6. |
- Frennesson, Christina, 1949-, et al.
(författare)
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Encouraging results of photodynamic therapy with Visudyne in a clinical patient material of age-related macular degeneration
- 2004
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Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907 .- 1600-0420. ; 82:6, s. 645-650
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To investigate the effects of photodynamic therapy (PDT) on subfoveal choroidal neovascularization (CNV) in age-related macular degeneration (AMD) in a Swedish patient material with smaller lesions than those investigated in the TAP (Treatment of Age-related Macular Degeneration with Photodynamic Therapy) and VIP (Verteporfin in Photodynamic Therapy) Studies. Methods: Photodynamic therapy with verteporfin was performed according to the results and recommendations of the TAP and VIP Studies. The patients were followed up for 12 months and retreatment was performed every 12 weeks when leakage from CNV was present. Of the 100 eyes in the first 100 patients with a follow-up period of 12 months, 59% had a predominantly classic lesion, 36% had an occult-only lesion and 5% had a minimally classic lesion. The greatest linear dimension (GLD) was ≤3 NIPS (Macular Photocoagulation Study) disc diameters (DD) in 73%, 39% and 20% of lesions, respectively, for the three groups. The actual lesion area was ≤3 MPS disc areas (DA) in 85%, 50% and 40% of lesions, respectively. There was a positive correlation (p < 0.05) between the duration of symptoms and GLD, as well as between the duration of symptoms and the lesion area (p < 0.02). Results: At 12 months, visual acuity had remained stable or increased by ≥3 lines (ETDRS) in 61% of patients with predominantly classic lesions, in 61% of patients with occult-only lesions and in 60% of patients with minimally classic lesions. Leakage had stopped after 2.9 ± 0.9 treatments in 77% of the total group of patients. Conclusion: The visual outcome was comparable to those of the TAP and VIP Studies (p > 0.3). Regarding the effect on leakage, however, our results are far better than those of the TAP and VIP Studies. The proportion of patients in which leakage had stopped was almost three times that of the TAP (27%) and VIP (26%) Studies. It seems likely that this difference was caused by the fact that the lesions in our study were much smaller, on average, than those in the TAP and VIP Studies.
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| 7. |
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| 8. |
- Frennesson, Christina, 1949-
(författare)
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Photodynamic therapy with verteporfin in patients with age-related macular degeneration and juxtafoveal choroidal neovascularization
- 2004
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Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907 .- 1600-0420. ; 82:6, s. 651-655
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To investigate the effects of photodynamic therapy (PDT) on juxtafoveal choroidal neovascularization (CNV) in age-related macular degeneration (AMD) in a clinical patient material. Methods: Thirty eyes in 30 consecutive patients with AMD and a juxtafoveal CNV underwent PDT with verteporfin with standard parameters. The patients were followed up for 12 months and retreated every 12 weeks in the event of leakage from CNV. Nineteen patients (63.3%) had a predominantly classic CNV, eight (26.7%) had a 100% occult CNV and three (10%) had a minimally classic lesion. In 27 patients (90%) the lesion was ≤ 3 MPS (Macular Photocoagulation Study) disc diameters and ≤ 3 MPS disc areas. Results: There was a positive correlation between duration of symptoms and loss of visual acuity at 12 months (p < 0.02). For predominantly classic lesions, there was a positive correlation between duration of symptoms and lesion size (p < 0.005). At 12 months, leakage had stopped after 3.3 ± 0.9 treatments in 80% of the patients. Visual acuity remained stable in 63.3% of the patients. Conclusion: Photodynamic therapy appears to be beneficial in patients with AMD and juxtafoveal CNV. Copyright © Acta Ophthalmol Scand 2004.
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| 9. |
- Frennesson, Christina, 1949-
(författare)
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Prophylactic laser treatment in early age-related maculopathy : An 8-year follow-up in a randomized pilot study shows a reduced incidence of exudative complications
- 2003
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Ingår i: Acta Ophthalmologica Scandinavica. - : Wiley. - 1395-3907 .- 1600-0420. ; 81:5, s. 449-454
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To study the effect of mild laser treatment on the incidence of exudative complications in patients with soft drusen maculopathy in a longterm perspective. Methods: In a prospective study, 38 patients with early age-related maculopathy and good visual acuity (VA) were randomized either to laser treatment using an argon green laser or to observation. At 8 years, 29 patients remained in the study, 16 in the control group and 13 in the treatment group. Results: During follow-up, mean VA decreased significantly in both groups, to 0.53 in the treatment group (p < 0.05) and to 0.25 in the control group (p < 0.001). At 8 years, 9/16 in the control group showed exudative complications, whereas only 2/13 in the treatment group developed such changes (p < 0.03). Conclusion: In this randomized pilot study, mild laser treatment of soft drusen maculopathy significantly reduced the rate of exudative complications in a longterm perspective. As the study is small, the results should be viewed with caution.
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| 13. |
- Nilsson, Ulla L, et al.
(författare)
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Patients with AMD and a large absolute central scotoma can be trained successfully to use eccentric viewing, as demonstrated in a scanning laser ophthalmoscope
- 2003
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Ingår i: Vision Research. - 0042-6989 .- 1878-5646. ; 43:16, s. 1777-1787
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Tidskriftsartikel (refereegranskat)abstract
- Twenty patients with age-related macular degeneration, an absolute central scotoma and a mean visual acuity of 0.04 (20/475) were studied. A scanning laser ophthalmoscope (SLO) was used for microperimetry and determination of preferred retinal locus, often located to the left of the retinal lesion (corresponding to a location to the left of the visual field scotoma), which is considered unfavorable for reading. All 20 patients were trained to use a new and more favorable retinal locus for reading, above (or occasionally below) the retinal lesion (corresponding to a location below or above the visual field scotoma), first by reading scrolled text under simultaneous fixation monitoring and instruction in the SLO and then by reading printed text, using high magnification (mean 14.3╫). For the 18 patients who learned to use eccentric viewing, reading speed with adequate magnification prior to training was 9.0▒5.8 words/min. With training (mean 5.2 hours), it increased significantly (p<0.001) to 68.3▒19.4 words per min. Training of eccentric reading has thus proved to be very successful.
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