Article
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.
Molecular vision - 1 Jan 2020
Namburi Prasanthi, Khateb Samer, Meyer Segev, Bentovim Tom, Ratnapriya Rinki, Khramushin Alisa, Swaroop Anand, Schueler-Furman Ora, Banin Eyal, Sharon Dror
Abstract excerpt
Purpose: North Carolina macular dystrophy (NCMD) is an autosomal dominant maculopathy that is considered a non-progressive developmental disorder with variable expressivity. Our study aimed to clinically and genetically characterize macular dystrophy in a family (MOL1154) consisting of six affected subjects with a highly variable maculopathy phenotype in which no correlation between age and severity exists....
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