Oguchi dieae with ectoral retiniti pigmentoa harboring adenine deletion at poition 1147 in the arretin gene

Purpoe To report a Japanee patient with Oguchi dieae and ectoral retiniti pigmentoa harboring a homozygou adenine deletion at poition 1147 (1147delA) in the arretin gene. Method Cae report. Reult In both eye, golden dicoloration with Mizuo-Nakamura phenomenon and tapetoretinal degeneration of the fundu were exhibited. Electroretinography howed abnormal a-wave and abent b-wave. The preence of 1147delA in the arretin gene wa demontrated. Concluion Our cae provide further evidence of the cloe aociation of 1147delA in the arretin gene in Japanee patient with Oguchi dieae. Coexpreion of both phenotype of Oguchi dieae and retiniti pigmentoa may ugget the poible involvement of additional defect of gene encoding the phototranduction protein.