Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates.

ABSTRACT:

Purpose

To systematically assess the ability to detect change and retest reliability for a panel of visual function assessments in ABCA4 retinopathy.

Design

Prospective natural history study (NCT01736293).

Methods

Patients with at least 1 documented pathogenic ABCA4 variant and a clinical phenotype consistent with ABCA4 retinopathy were recruited from a tertiary referral center. Participants underwent longitudinal, multifaceted functional testing, including measures of function at fixation (best-corrected visual acuity, low-vision Cambridge Color Test), macular function (microperimetry), and retina-wide function (full-field electroretinography [ERG]). Two- and 5-year ability to detect change was determined based on the η² statistic.

Results

A total o

SUBMITTER: Pfau M 

PROVIDER: S-EPMC10524499 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature