Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene.


OBJECTIVE To characterize clinical features of patients with Oguchi disease associated with a homozygous deletion of adenine at nucleotide 1147 (1147delA) in codon 309 in the arrestin gene. METHODS Mutation screening by single-strand conformation polymorphism analysis was done, followed by sequencing. Ophthalmologic testing included evaluation of visual… (More)


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