September 30, 2003

RDH5 Gene Mutation Can Cause Macular Dystrophy

Posted in: Research and Developments

by Dan Roberts
September 2003

Japanese researchers have found that mutations in the RDH5 gene can cause macular dystrophy, fundus albipunctatus, and/or night blindness.

Twenty-one patients from nineteen different families with fundus albipunctatus were analyzed. Ten of the patients had macular dystrophy. In eighteen, mutations were found in the RDH5.

The patients were tested using a bright-flash, mixed rod-cone ERG. Those with macular dystrophy showed a significantly greater subnormal photopic response.

The study is published in Documenta Ophthalmologica (RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy – RDH5 mutations and ERG in fundus albipunctatus. Doc Ophthalmol, 2003;107(1):3-11).

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