Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort

IMPORTANCE: Biallelic variants in CLN3 lead to a spectrum of diseases, ranging from severe neurodegeneration with retinal involvement (juvenile neuronal ceroid lipofuscinosis) to retina-restricted conditions. OBJECTIVE: To provide a detailed description of the retinal phenotype of patients with isol...

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Detalhes bibliográficos
Publicado no:JAMA Ophthalmol
Main Authors: Smirnov, Vasily M., Nassisi, Marco, Solis Hernandez, Cyntia, Méjécase, Cécile, El Shamieh, Said, Condroyer, Christel, Antonio, Aline, Meunier, Isabelle, Andrieu, Camille, Defoort-Dhellemmes, Sabine, Mohand-Said, Saddek, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2021
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7844693/
https://ncbi.nlm.nih.gov/pubmed/33507216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.6089
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