Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

Abstract

Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies. This study was conducted to investigate genetic and clinical features of LCA in a set of Japanese male twins with LCA. Methods. To identify causative… (More)
DOI: 10.1155/2015/693468

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