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Macular dystrophy in a 9-year-old boy with fundus albipunctatus
1Department of Ophthalmology, Nagoya University School of Medicine, 65-Tsuruma-cho, Showa-ku, Nagoya 466-8550, Japan. makonaka@med.nagoya-u.ac.jp
Purpose:
To report a 9-year-old boy with fundus albipunctatus and macular dystrophy.
Design:
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.
Conclusion:
We suggest that the macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctatus.
