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ST O'Connor, Z Yang, S Thirumalaichary, C Trallis, K Zhang; Autosomal Dominant Macular Dystrophy: Evidence for a Novel Disease-causing Gene . Invest. Ophthalmol. Vis. Sci. 2002;43(13):810.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To report a kindred with an autosomal dominantly inherited macular dystrophy without linkage to or associated mutations in previously reported retinal dystrophy-causing genes. Methods: A multi-generation caucasian kindred with several members affected by macular dystrophy was identified. After complete ophthalmic examinations of 32 individuals who participated in the study, six were found to be affected with macular degeneration. The disease gene is transmitted as an autosomal dominant trait. Linkage analysis to EFEMP1, RDS/Peripherin, CORD7, STGD3/ELOVL4, ABCA4, dominant drusen on chromosome 6q, and MCDR1 was performed. Results: Affected individuals showed areas of macular geographic atrophy with macular and extramacular drusen. Vision ranged from 20/25- to HM with most affected eyes having visual acuity between 20/200 and 20/400. Linkage analysis using short-tandem polymorphic markers encompassing candidate loci showed that none of above described loci were associated with the phenotype in this kindred. Direct sequencing of RDS/peripherin and ELOVL4 showed no mutations in any of the affected individuals. Conclusion: We identified a kindred with an autosomal dominant macular dystrophy. Linkage analysis and candidate gene sequencing have excluded previously reported genes causing macular dystrophy. A genome-wide scan is underway to identify the potentially novel locus associated with this macular dystrophy.
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