Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.

ABSTRACT:

Purpose

Congenital achromatopsia (ACHM) is an autosomal recessive disorder in which cone function is absent or severely reduced. Gene therapy in animal models of ACHM have shown restoration of cone function, though translation of these results to humans relies, in part, on the presence of viable cone photoreceptors at the time of treatment. Here, we characterized residual cone structure in subjects with CNGB3-associated ACHM.

Methods

High-resolution imaging (optical coherence tomography [OCT] and adaptive optics scanning light ophthalmoscopy [AOSLO]) was performed in 51 subjects with CNGB3-associated ACHM. Peak cone density and inter-cone spacing at the fovea was measured using split-detection AOSLO. Foveal outer nuclear layer thickness was measured in OCT images, and the in

SUBMITTER: Langlo CS 

PROVIDER: S-EPMC4978151 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature