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.