A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.

ABSTRACT:

Purpose

To investigate the distribution of genotypes and natural history of ABCA4-associated retinal disease in a large cohort of patients seen at a single institution.

Design

Retrospective, single-institution cohort review.

Participants

Patients seen at the University of Iowa between November 1986 and August 2022 clinically suspected to have disease caused by sequence variations in ABCA4.

Methods

DNA samples from participants were subjected to a tiered testing strategy progressing from allele-specific screening to whole genome sequencing. Charts were reviewed, and clinical data were tabulated. The pathogenic severity of the most common alleles was estimated by studying groups of patients who shared 1 allele. Groups of patients with shared genotypes were review

SUBMITTER: Fenner BJ 

PROVIDER: S-EPMC11398085 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature