Article
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Jul 2000
Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N
Abstract excerpt
BACKGROUND: A variety of PAX6 gene mutations were identified in patients with aniridia and/or allied ocular dysgenesis such as keratopathy, Peters' anomaly, foveal hypoplasia, and nystagmus. To scrutinize the etiology of a four-generation Japanese family with autosomal dominant nystagmus associated with anterior and posterior segment anomalies, the PAX6 gene was examined. PATIENTS AND METHODS: A Japanese family...
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