Article
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Ophthalmology - 1 Jan 2023
Yahya Samar, Smith Claire E L, Poulter James A, McKibbin Martin, Arno Gavin, Ellingford Jamie, Kämpjärvi Kati, Khan Muhammad I, Cremers Frans P M, Hardcastle Alison J, Castle Bruce, Steel David H W, Webster Andrew R, Black Graeme C, El-Asrag Mohammed E, Ali Manir, Toomes Carmel, Inglehearn Chris F
Abstract excerpt
PURPOSE: To characterize the phenotype observed in a case series with macular disease and determine the cause. DESIGN: Multicenter case series. PARTICIPANTS: Six families (7 patients) with sporadic or multiplex macular disease with onset at 20 to 78 years, and 1 patient with age-related macular degeneration. METHODS: Patients underwent ophthalmic examination; exome, genome, or targeted sequencing; and/or...
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