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Article

Young Monozygotic Twin Sisters With Fundus Albipunctatus and Cone Dystrophy

1 Aug 2004

Abstract excerpt

OBJECTIVE: To describe young monozygotic twin sisters with fundus albipunctatus (a type of autosomal recessive stationary night blindness caused by mutations of the 11-cis retinol dehydrogenase gene [RDH5]) associated with cone dystrophy, previously reported in elderly men. METHODS: Ophthalmologic examinations were performed, and the RDH5 gene was analyzed by direct genomic sequencing. RESULTS: Twin 23-year-old...

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PMID: 15302662
DOI: 10.1001/archopht.122.8.1203

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