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

ABSTRACT:

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 referral center for inherited retinal diseases in Italy. Data were prospectively acquired from January 2015 to June 2022. Patients diagnosed with an inherited retinal disease related to biallelic ABCA4 variants were included for analysis.

Exposure

Genotype, classified into 4 groups according to the presence of the (1) p.Gly1961Glu allele, (2) a hypomorphic

SUBMITTER: Bianco L 

PROVIDER: S-EPMC10375385 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature