Rare occult macular dystrophy with a pathogenic variant in the RP1L1 gene in a patient of Swiss descent

PURPOSE: We report a first case of bilateral occult macular dystrophy (OMD) with a c.133C>T (p.Arg45Trp) pathogenic variant in the retinitis pigmentosa 1-like 1 (RP1L1) gene in a patient of Caucasian Swiss decent. OBSERVATIONS: A 34-year-old man presented with decreased visual acuity known since...

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Detalles Bibliográficos
Autores principales: Zabek, Olga, Lamprakis, Ioannis, Rickmann, Annekatrin, Calzetti, Giacomo, György, Bence, Scholl, Hendrik P.N., della Volpe Waizel, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020090/
https://www.ncbi.nlm.nih.gov/pubmed/35464678
http://dx.doi.org/10.1016/j.ajoc.2022.101527

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