Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.

ABSTRACT:

Purpose

The purpose of this study was to assess the natural history of the foveal cone mosaic in CNGA3-associated achromatopsia (ACHM).

Methods

Thirteen eyes from 10 genetically confirmed patients underwent longitudinal imaging with optical coherence tomography (OCT) and non-confocal split detection adaptive optics scanning light ophthalmoscopy (AOSLO). OCT scans assessed outer nuclear layer (ONL) thickness, foveal ellipsoid zone (EZ) disruption, and foveal hypoplasia. AOSLO images were analyzed to calculate peak foveal cone density (PCD) and mean inter-cell distance (ICD) between cones. Mixed effects models were used to analyze the rate of annual change of PCD and ICD.

Results

Mean (±SD) age at visits was 29 ± 10 years, with a follow-up of 2.6 ± 1 years. There was no

SUBMITTER: Katta M 

PROVIDER: S-EPMC11460564 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature