Young Monozygotic Twin Sisters With Fundus Albipunctatus and Cone Dystrophy
نویسندگان
چکیده
منابع مشابه
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
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. RESULT...
متن کاملA high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
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 ...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2004
ISSN: 0003-9950
DOI: 10.1001/archopht.122.8.1203