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...

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Detalles Bibliográficos
Autores principales: You, Hyelin, Sierpina, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
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

Internet

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

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