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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...
Autores principales: | Zabek, Olga, Lamprakis, Ioannis, Rickmann, Annekatrin, Calzetti, Giacomo, György, Bence, Scholl, Hendrik P.N., della Volpe Waizel, Maria |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
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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