Macular dystrophy in a Japanese family with fundus albipunctatus

To report a Japanese family with fundus albipunctatus and macular dystrophy associated with a mutation in the 11-cis retinol dehydrogenase (RDH5) gene. Observational case report. Ophthalmic examinations and DNA analysis were performed. The fundi of a 56-year-old man and his 51-year-old sister showed...

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Bibliographic Details
Published in:American journal of ophthalmology 2003-06, Vol.135 (6), p.917-919
Main Authors: Hotta, Kazuki, Nakamura, Makoto, Kondo, Mineo, Ito, Sei, Terasaki, Hiroko, Miyake, Yozo, Hida, Tetsuo
Format: Article
Language:English
Subjects:
Alcohol Oxidoreductases - genetics
Biological and medical sciences
Blindness
Color Perception Tests
Diseases of cornea, anterior segment and sclera
DNA Mutational Analysis
Electroretinography
Eyes & eyesight
Female
Fundus Oculi
Genotype & phenotype
Humans
Japan - epidemiology
Macular Degeneration - diagnosis
Macular Degeneration - ethnology
Macular Degeneration - genetics
Male
Medical sciences
Middle Aged
Mutation
Night Blindness - congenital
Night Blindness - diagnosis
Night Blindness - ethnology
Ophthalmology
Pedigree
Phenotype
Point Mutation
Retinopathies
Visual Fields
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Summary:To report a Japanese family with fundus albipunctatus and macular dystrophy associated with a mutation in the 11-cis retinol dehydrogenase (RDH5) gene. Observational case report. Ophthalmic examinations and DNA analysis were performed. The fundi of a 56-year-old man and his 51-year-old sister showed numerous yellow-white punctata. He also had bull’s-eye maculopathy and prepappillary arterial loops, whereas she did not, and his best-corrected visual acuity was impaired, whereas hers was normal. Their kinetic visual fields did, however, show central or paracentral scotoma, and both had tritanomalous color vision. Their scotopic electroretinograms were typical of fundus albipunctatus, and photopic electroretinograms were significantly reduced. A homozygous Gly107Arg mutation in the RDH5 gene was detected in both siblings. We suggest that the macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus.
ISSN:0002-9394
1879-1891
DOI:10.1016/S0002-9394(02)02290-0