Retinal structure and function in achromatopsia: implications for gene therapy.

ABSTRACT:

Purpose

To characterize retinal structure and function in achromatopsia (ACHM) in preparation for clinical trials of gene therapy.

Design

Cross-sectional study.

Participants

Forty subjects with ACHM.

Methods

All subjects underwent spectral domain optical coherence tomography (SD-OCT), microperimetry, and molecular genetic testing. Foveal structure on SD-OCT was graded into 5 distinct categories: (1) continuous inner segment ellipsoid (ISe), (2) ISe disruption, (3) ISe absence, (4) presence of a hyporeflective zone (HRZ), and (5) outer retinal atrophy including retinal pigment epithelial loss. Foveal and outer nuclear layer (ONL) thickness was measured and presence of hypoplasia determined.

Main outcome measures

Photoreceptor appearance on SD-OCT imaging,

SUBMITTER: Sundaram V 

PROVIDER: S-EPMC3895408 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature