Japanese Patients with Fundus Albipunctatus Caused by RDH5 Gene Mutations
Fundus albipunctatus is a type of congenital stationary night blindness with an autosomal recessive inheritance pattern. The fundus demonstrates a large number of discrete, small, round or elliptical, yellow-white lesions. Recent studies have demonstrated that mutations of the 11-cis retinol dehydrogenase (RDH5) gene causes this disease. We analyzed the RDH5 gene in Japanese families with fundus albipunctatus, and in all, either a homozygous or a compound heterozygous mutation in the RDH5 gene was identified. We conclude that most Japanese fundus albipunctatus patients are caused by the RDH5 gene mutation. The mutation of c.928 C deletion/GAAG insertion occurred at a relatively high frequency in Japanese patients, suggesting a founder effect. Most of the elderly fundus albipunctatus patients had cone dystrophy with a depression of visual functions. We suggest that the mutations of the RDH5 gene causes a cone dystrophy as well as night blindness in Japanese patients.
KeywordsRetinal Pigment Epithelium Compound Heterozygous Mutation Cone Dystrophy Congenital Stationary Night Blindness Retinol Dehydrogenase
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