A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.

ABSTRACT:

Purpose

To describe the natural history of autosomal dominant (AD) GUCY2D-associated cone-rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers.

Methods

Retrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two sites. Assessments included central macular thickness (CMT) and length of disruption to the ellipsoid zone (EZ) via optical coherence tomography (OCT), electroretinography (ERG) parameters, best corrected visual acuity (BCVA), and fundus autofluorescence (FAF).

Results

At first visit, with a mean age of 30 years (range 5-70 years), 12 patients had a BCVA below Australian driving standard (LogMAR ≥ 0.3 bilaterally), and 1 patient was legally blind (LogMAR ≥ 1). Longitudinal analysis demonstrated a deteriora

SUBMITTER: Scopelliti AJ 

PROVIDER: S-EPMC10638150 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature