Clinical findings in four siblings with genetically proven oguchi disease
نویسندگان
چکیده
منابع مشابه
Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.
Oguchi disease is an autosomal recessive condition in which congenital night blindness is associated with a light-dependent golden fundus discoloration (Mizuo-Nakamura phenomenon). Co-segregation of Oguchi disease with chromosome 2q markers in an Indian pedigree (Maw et al., 1995) and a homozygous frameshift mutation in 5 of 6 apparently unrelated Japanese patients (Fuchs et al., 1995) has impl...
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ژورنال
عنوان ژورنال: Journal of Current Ophthalmology
سال: 2020
ISSN: 2452-2325
DOI: 10.4103/joco.joco_155_20