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Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination

Oguchi disease is an autosomal recessive condition in which congenital night blindness is associated with a light-dependent golden fundus discoloration (Mizuo-Nakamura phenomenon). Co-segregation of Oguchi disease with chromosome 2q markers in an Indian pedigree (Maw et al., 1995) and a homozygous frameshift mutation in 5 of 6 apparently unrelated Japanese patients (Fuchs et al., 1995) has implicated the arrestin gene in this condition. Here, we report an Indian family in which two siblings affected by Oguchi disease are homozygous for a codon 193 Arg-to-ter mutation in the arrestin gene.