Macular dystrophy in a 9-year-old boy with fundus albipunctatus.
OBJECTIVE
To report a 9-year-old boy with fundus albipunctatus and macular dystrophy.


METHODS
Observational case report.


METHODS
A complete ophthalmic examination was performed. The 11-cis retinol dehydrogenase gene (RDH5) was examined by direct genomic sequencing.


RESULTS
The fundi of the 9-year-old boy showed numerous yellow-white punctata as well as foveal atrophic lesions in both eyes. His corrected visual acuity was RE: 0.5 and LE: 0.3. Scotopic full-field electroretinograms were not present after 20 minutes of dark-adaptation but were normal after 3 hours of dark-adaptation. Full-field cone and 30-Hz flicker electroretinograms were normal; however, focal macular cone electroretinograms were significantly reduced. A compound heterozygous mutation of Tyr281His and Leu310GluVal in RDH5 was detected.


CONCLUSIONS
We suggest that the macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctatus.
Nakamura
Makoto
M
Department of Ophthalmology, Nagoya University School of Medicine, 65-Tsuruma-cho, Showa-ku, Nagoya 466-8550, Japan. makonaka@med.nagoya-u.ac.jp
Miyake
Yozo
Y
D000429:Alcohol Oxidoreductases / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D003623:Dark Adaptation; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005451:Fluorescein Angiography; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009755:Night Blindness / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D014792:Visual Acuity
D000429:Alcohol Oxidoreductases; C022520:retinol dehydrogenase