A Novel Gly35Ser Mutation in the RDH5 Gene in a Japanese Family With Fundus Albipunctatus Associated With Cone Dystrophy
نویسندگان
چکیده
منابع مشابه
A 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 ...
متن کاملA frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.
PURPOSE To identify the frequency of a mutation of the RDH5 gene in Japanese patients with hereditary retinal degeneration and to characterize clinical findings for the patients associated with a 1085delC/insGAAG mutation in the RDH5 gene. METHODS Mutation screening by single-strand conformation polymorphism was performed on 6 patients with fundus albipunctatus and 150 patients with autosomal...
متن کاملLong-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.
Report of a Case. A 56-year-old woman had a 2-month history of decreased vision and mild discomfort in the left eye. She had a history of penetrating injuryat theageof8years that led to traumatic cataract and corneal scarring in her left eye. Two years before we saw her, she had undergone uncomplicatedcombinedcataractextraction and lens implantation with penetrating keratoplasty elsewhere. Ther...
متن کاملYoung 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 Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2001
ISSN: 0003-9950
DOI: 10.1001/archopht.119.7.1059