High-resolution images of retinal structure in patients with choroideremia.

ABSTRACT:

Purpose

To study retinal structure in choroideremia patients and carriers using high-resolution imaging techniques.

Methods

Subjects from four families (six female carriers and five affected males) with choroideremia (CHM) were characterized with best-corrected visual acuity (BCVA), kinetic and static perimetry, full-field electroretinography, and fundus autofluorescence (FAF). High-resolution macular images were obtained with adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography (SD-OCT). Coding regions of the CHM gene were sequenced.

Results

Molecular analysis of the CHM gene identified a deletion of exons 9 to 15 in family A, a splice site mutation at position 79+1 of exon 1 in family B, deletion of exons 6 to 8 in f

SUBMITTER: Syed R 

PROVIDER: S-EPMC3564452 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature