RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort
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چکیده
منابع مشابه
A 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 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 ...
متن کاملNovel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families
PURPOSE To identify the underlying genetic causes of fundus albipunctatus (FA), a rare form of congenital stationary night blindness that is characterized by the presence of white dots in the midperiphery of the retina and delayed dark adaptation, in Pakistan. METHODS Two families with FA were identified by fundus examination, and genome-wide single nucleotide polymorphism genotyping was perf...
متن کاملFundus albipunctatus-like lesions in juvenile retinoschisis.
1 Sonoda T, Hashimoto H, Enjoji M. Juvenile xanthogranuloma: clinicopathological analysis and immnunohistochemical study of 57 patients. Cancer 1985; 56: 2280-6. 2 Zimmerman LE. Ocular lesions of juvenile xanthogranuloma. AmJI Ophthalmol 1965; 60: 1011-35. 3 Collum LMT, Mullaney J. Adult limbal xanthogranuloma. BrJ Ophthalmol 1984; 68: 360-3. 4 Lewis JR, Drummond GT, Mielke BW, Hassard DT, Astl...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2020
ISSN: 1552-5783
DOI: 10.1167/iovs.61.3.53