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Article

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

JAMA ophthalmology - 1 Mar 2021

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

Abstract excerpt

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 isolated retinal degeneration harboring biallelic CLN3 pathogenic variants and to attempt a phenotype-genotype...

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Identifiers

PMID: 33507216
DOI: 10.1001/jamaophthalmol.2020.6089
PMCID: PMC7844693

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