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A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy
PURPOSE: To report a novel 11-cis retinol dehydrogenase gene (RDH5) variant discovered in a 57-year-old male with fundus albipunctatus (FA) complicated by severe macular atrophy. METHODS: The patient was evaluated with a complete ophthalmic examination, optical coherence tomography (OCT), color fund...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9007684/ https://www.ncbi.nlm.nih.gov/pubmed/35433063 http://dx.doi.org/10.1155/2022/1183772 |