Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

ABSTRACT:

Importance

The mechanisms behind the phenotypic variability and reduced penetrance in autosomal recessive Stargardt disease (STGD1), often a blinding disease, are poorly understood. Identification of the unknown disease modifiers can improve patient and family counseling and provide valuable information for disease management.

Objective

To assess the association of incompletely penetrant ABCA4 alleles with sex in STGD1.

Design, setting, and participants

Genetic data for this cross-sectional study were obtained from 2 multicenter genetic studies of 1162 patients with clinically suspected STGD1. Unrelated patients with genetically confirmed STGD1 were selected. The data were collected from June 2016 to June 2019, and post hoc analysis was performed between July 2019 and

SUBMITTER: Runhart EH 

PROVIDER: S-EPMC7441467 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature