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C. S. Barnes, J. Yan, M. M. Bouzyk, M. M. WIlson, E. Garcia-Valenzuela; Heterogeneity in Autosomal Dominant Retinal Detachments. Invest. Ophthalmol. Vis. Sci. 2008;49(13):5239.
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Cases of autosomal dominant retinal detachments (RDs) often show other ocular and systemic abnormalities, such as the early cataracts, perivascular pigmentary degeneration, and cleft palate in Stickler syndrome (STL). The systemic effects are variable in STL, with recent reports of some families without apparent systemic involvement. Those cases generally resulted from mutations in exon 2 of the COL2A1 collagen gene. We describe a family with autosomal dominant RDs and retinoschisis without systemic abnormalities.
Proband S1 had an RD OD and laser of OS at age 45. Shortly before he re-detached 5 years later, S1’s daughter (S3; age 23) presented with a 2-month history of blurry vision OD. She was found to have a macula-off RD OD. Examination of her asymptomatic brothers (S4, S5; ages 20 and 15) revealed that they were also affected. The treatments over the past 5 years will be reviewed, along with results from eye exams for all family members including the mother (S2). Mutation screening of relevant exons was performed by direct sequencing of the COL2A1 gene using DNA derived from either blood or saliva.
No family members showed any clinically apparent systemic abnormalities. S2 showed no abnormalities on ophthalmological exam. Fundus exams showed retinoschisis in the other family members, along with peripheral lattice degeneration with atrophic holes or tears. All have received laser retinoplexy. Three patients (S1 OD, S3 OU, S5 OU) received additional vitrectomy for RD repair. One eye (S5 OD) developed PVR with recurrent RD and was repaired with vitrectomy and silicon oil. Visual acuity losses were mild to moderate, except for S5 OD (20/100). The patients did not have high myopia, complaints of impaired night vision, or cataracts prior to surgery. Mutation screening of COL2A1 exons continues, but the results so far have been negative.
We present another family with autosomal dominant RDs without systemic abnormalities. Mutations were not found in exon 2 of COL2A1 or in any of the autosomal dominant RD exons reported to-date, indicating further genetic heterogeneity. This case points out the importance of dilated exams for other family members in cases of RDs.
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