Abstract | OBJECTIVE: DESIGN: Case report with clinical findings and results of fluorescein angiography, electroretinograms, kinetic visual field testing, dark adaptometry, and DNA analysis. SETTING: University medical center. PATIENTS: RESULTS: Characteristic features included poor night vision, white dots in the retina, cone dystrophy, and a mottled appearance of the retinal pigment epithelium. Electroretinograms showed greater impairment of the rod-mediated responses than the cone-mediated responses. After 3 hours of dark adaptation, the a and b waves and scotopic b waves recovered. CONCLUSIONS: Although the mutation of the RDH5 gene has been known as a causative gene of fundus albipunctatus, the Gly35Ser mutation in the RDH5 gene may be related to the pathogenesis of progressive retinal degeneration. This phenomenon may provide evidence of gene phenotype caused by a mutation in the RDH5 gene. CLINICAL RELEVANCE:
|
Authors | Y Wada, T Abe, H Sato, M Tamai |
Journal | Archives of ophthalmology (Chicago, Ill. : 1960)
(Arch Ophthalmol)
Vol. 119
Issue 7
Pg. 1059-63
(Jul 2001)
ISSN: 0003-9950 [Print] United States |
PMID | 11448328
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
- Alcohol Oxidoreductases
- retinol dehydrogenase
|
Topics |
- Alcohol Oxidoreductases
(genetics)
- DNA Mutational Analysis
- Dark Adaptation
- Electroretinography
- Fluorescein Angiography
- Humans
- Japan
(epidemiology)
- Male
- Middle Aged
- Night Blindness
(enzymology, ethnology, genetics, physiopathology)
- Pedigree
- Point Mutation
- Retinal Cone Photoreceptor Cells
(enzymology, physiopathology)
- Retinal Degeneration
(enzymology, ethnology, genetics, physiopathology)
- Retinal Rod Photoreceptor Cells
(enzymology, physiopathology)
- Visual Fields
(physiology)
|