Reevaluating the Association of Sex With ABCA4 Alleles in Patients With Stargardt Disease.

ABSTRACT:

Importance

Probing differences in disease prevalence between sexes is challenging, especially in mendelian diseases. Independent replication of any association study is warranted.

Objective

To evaluate whether the recently reported association between sex and mild ABCA4 alleles among patients with autosomal recessive Stargardt disease (STGD1) is reproducible.

Design, setting, and participants

Sequencing and clinical data from 644 unrelated patients with genetically confirmed STGD1 were analyzed in a cross-sectional study at the Department of Ophthalmology, Columbia University, New York, New York. Data were collected from June 1999 to October 2020.

Main outcomes and measures

Sex, best-corrected visual acuity, and age at onset among patients with STGD1 with and w

SUBMITTER: Lee W 

PROVIDER: S-EPMC8017480 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature