Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.

ABSTRACT:

Purpose

Gene therapy trials for inherited photoreceptor disorders are planned. Anatomical metrics to select the best candidates and outcomes are needed. Adaptive optics (AO) imaging enables visualization of photoreceptor structure, although analytical tools are lacking. Here we present criteria to assess residual photoreceptor integrity in achromatopsia (ACHM).

Methods

Two AOSLOs, at the Medical College of Wisconsin and Moorfields Eye Hospital, were used to image the photoreceptor mosaic of 11 subjects with ACHM and 7 age-matched controls. Images were obtained, processed, and montaged using previously described methods. Cone density and reflectivity were quantified to assess residual cone photoreceptor structure.

Results

All subjects with ACHM had reduced numbers of c

SUBMITTER: Dubis AM 

PROVIDER: S-EPMC4235328 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature