Article
[A case of fundus albipunctatus with a retinol dehydrogenase 5 gene mutation in a child].
Nippon Ganka Gakkai zasshi - 1 Aug 2001
Miyazaki K, Murakami A, Imamura S, Yoshii M, Ishida M, Washio N, Okisaka S
Abstract excerpt
BACKGROUND: We examined a family with fundus albipunctatus in which mutation of the retinol dehydrogenase 5(RDH 5) gene was suspected to be the cause of this disease. CASE: An 8-year-old girl had diffuse multiple white dots in her fundus except for the macula. She had good central vision. The amplitude of her electroretinogram wave was low, but it recovered after three hours of dark adaptation. Dark adaptometry...
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