Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease

To investigate how genotype is related to phenotype and document correlations of genotype-phenotype with response of topical administration of dorzolamide in siblings affected with X-linked juvenile retinoschisis (XLRS). We performed a retrospective study on two male siblings (four eyes) with XLRS,...

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Detalles Bibliográficos
Autores principales: CHRISTODOULOU, Panayiotis, TANTELES, George, NIKOLAOU, Nayia, KATSIMBRIS, Ioannis, STEFANIOTOU, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medical Hypothesis, Discovery & Innovation Ophthalmology 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433199/
https://www.ncbi.nlm.nih.gov/pubmed/30923717

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