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- W1970153668 abstract "To report a 9-year-old boy with fundus albipunctatus and macular dystrophy.Observational case report.A complete ophthalmic examination was performed. The 11-cis retinol dehydrogenase gene (RDH5) was examined by direct genomic sequencing.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.We suggest that the macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctatus." @default.
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- W1970153668 date "2002-02-01" @default.
- W1970153668 modified "2023-09-28" @default.
- W1970153668 title "Macular dystrophy in a 9-year-old boy with fundus albipunctatus" @default.
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- W1970153668 doi "https://doi.org/10.1016/s0002-9394(01)01304-6" @default.
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