Clinicopathologic effects of mutant GUCY2D in leber congenital amaurosis

Abstract

Purpose: To study the retinal degeneration in an 111/2-year-old patient with Leber congenital amaurosis (LCA) caused by mutation in GUCY2D. Study Design: Comparative human tissue study. Participants: Two subjects with LCA; postmortem eye from one LCA patient and three normal donors. Methods: Clinical and visual function studies were performed between the ages of 6 and 10 years in the LCA eye donor and at age 6 in an affected sibling. Genomic DNA was screened for mutations in known LCA genes. The retina of the 111/2-year-old subject with LCA was compared with normal retinas from donors age 3 days, 18 years, and 53 years. The tissues were processed for histopathologic studies and immunofluores..