Article
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Nature genetics - 1 Dec 1996
Perrault I, Rozet J M, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier J L, Pittler S, Munnich A, Kaplan J
Abstract excerpt
Leber's congenital amaurosis (LCA, MIM 204,000), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal dystrophies. This autosomal recessive condition is usually recognized at birth or during the first months of life in an infant with total blindness or greatly impaired vision, normal fundus and extinguished electroretinogram (ERG). Nystagmus (pendular type)...
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