Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene

Abstract

To report a Japanese patient with Oguchi disease and sectoral retinitis pigmentosa harboring a homozygous adenine deletion at position 1147 (1147delA) in the arrestin gene. Case report. In both eyes, golden discoloration with Mizuo-Nakamura phenomenon and tapetoretinal degeneration of the fundus were exhibited. Electroretinography showed abnormal a-wave and absent b-wave. The presence of 1147delA in the arrestin gene was demonstrated. Our case provides further evidence of the close association of 1147delA in the arrestin gene in Japanese patients with Oguchi disease. Coexpression of both phenotypes of Oguchi disease and retinitis pigmentosa may suggest the possible involvement of additional defects of genes encoding the phototransduction proteins.