Article
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
Investigative ophthalmology & visual science - 1 Nov 2000
Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y
Abstract excerpt
PURPOSE: To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether the disease is stationary or progressive and whether the cone dystrophy is a part of fundus albipunctatus or a separate disease. METHODS: Fourteen patients from 12 separate Japanese families with fundus albipunctatus were examined. Six of the patients from 6 families also had a cone...
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