Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.

doi:10.1167/iovs.67.2.19

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Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.

Investigative ophthalmology & visual science - 2 Feb 2026

Cobos Estefania, Català-Mora Jaume, Aguilera Cinthia, Biarnés Marc, Distefano Laura, Antolín-Maté María, Casaroli-Marano Ricardo P, Alforja Socorro, Barberán-Martínez Pilar, Millán José M, García-García Gema, Santamaría Juan Francisco, Yubero Delia, Irigoyen Cristina, Caminal Josep Maria, Arias Lluis, Corradi Zelia, Cremers Frans P M, Sau Cristina, Jordan-Cumplido Sara, Esteve-Garcia Anna

Abstract excerpt

Purpose: ABCA4-associated retinopathy includes a broad range of inherited retinal dystrophies (IRDs), marked by notable genetic and phenotypic heterogeneity that complicates diagnosis and counseling. This study aims to evaluate genotype-phenotype correlations to improve clinical management and risk stratification. Methods: In this multicenter, retrospective, cross-sectional study, we analyzed 245 patients with...

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PMID: 41642025
DOI: 10.1167/iovs.67.2.19
PMCID: PMC12889180

Genes

ABCA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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