Photoreceptor Structure in GNAT2-Associated Achromatopsia.

ABSTRACT:

Purpose

The purpose of this study was to report GNAT2-associated achromatopsia (GNAT2-ACHM) natural history, characterize photoreceptor mosaic, and determine a therapeutic window for potential intervention.

Methods

Patients with GNAT2-ACHM were recruited from a single tertiary referral eye center (Moorfields Eye Hospital, London, UK). We performed longitudinal clinical evaluation and ophthalmic examination, and multimodal retinal imaging, including adaptive optics scanning light ophthalmoscopy, quantitative analysis of the cone mosaic, and outer nuclear layer (ONL) thickness, including cone densities evaluation in selected regions of interest and comparison with reported healthy controls.

Results

All nine subjects (3 women) presented with nystagmus, decreased visual a

SUBMITTER: Georgiou M 

PROVIDER: S-EPMC7401776 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature