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Article

Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.

Investigative ophthalmology & visual science - 1 Mar 2023

Kolesnikova Masha, Lima de Carvalho Jose Ronaldo, Oh Jin Kyun, Soucy Megan, Demirkol Aykut, Kim Angela H, Tsang Stephen H, Breazzano Mark P

Abstract excerpt

Purpose: To describe the phenotype of CLN-associated retinal dystrophy in a subset of patients at the Columbia University Medical Center, United States, and the Hospital das Clínicas de Pernambuco, Brazil, in comparison to the published literature. Methods: Eleven patients with confirmed biallelic variants in the CLN genes were evaluated via dilated fundus examination, clinical imaging, and full-field...

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Identifiers

PMID: 36912596
DOI: 10.1167/iovs.64.3.23
PMCID: PMC10019488

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