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Article

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.

Investigative ophthalmology & visual science - 5 Mar 2024

Jin Yili, Li Songshan, Jiang Zhaoxin, Sun Limei, Huang Li, Zhang Ting, Liu Xinyu, Ding Xiaoyan

Abstract excerpt

Purpose: The purpose of this study was to investigate the genotypic and phenotypic characteristics of CRB1-associated early onset retinal dystrophy (CRB1-eoRD) and retinal architecture by swept-source optical coherence tomography (SS-OCT). Methods: Eleven probands with CRB1-eoRD were recruited. Clinical information, genetic analysis, and comprehensive ophthalmic examinations including SS-OCT and SS-OCT...

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Identifiers

PMID: 38466290
DOI: 10.1167/iovs.65.3.11
PMCID: PMC10929744

Genes

CRB1

Provenance

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