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Article

Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.

JAMA ophthalmology - 1 Sept 2023

Bianco Lorenzo, Arrigo Alessandro, Antropoli Alessio, Manitto Maria Pia, Martina Elisabetta, Aragona Emanuela, Bandello Francesco, Battaglia Parodi Maurizio

Abstract excerpt

Importance: ABCA4-associated retinopathy is a common inherited retinal disease, and its phenotype spans from late-onset macular dystrophy to extensive cone-rod degeneration. Over 2000 disease-causing variants in the ABCA4 gene have been identified. Objective: To investigate genotype-phenotype correlations in ABCA4-associated retinopathy. Design, Setting, and Participants: This cohort study took place at a single...

Topics

Humans
Female
Adult
Male
Stargardt Disease
Cohort Studies
ATP-Binding Cassette Transporters
Genotype
Phenotype
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37498587
DOI: 10.1001/jamaophthalmol.2023.3188
PMCID: PMC10375385

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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