Article
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
PloS one - 1 Jan 2012
Tan Mei Hong, Mackay Donna S, Cowing Jill, Tran Hoai Viet, Smith Alexander J, Wright Genevieve A, Dev-Borman Arundhati, Henderson Robert H, Moradi Phillip, Russell-Eggitt Isabelle, MacLaren Robert E, Robson Anthony G, Cheetham Michael E, Thompson Dorothy A, Webster Andrew R, Michaelides Michel, Ali Robin R, Moore Anthony T
Abstract excerpt
Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the prevalence of sequence variants in AIPL1 in a large cohort of such patients (n = 392) and probed the likelihood of disease-causation of the identified variants,...
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