Multimodal Imaging of Photoreceptor Structure in Choroideremia.

ABSTRACT:

Purpose

Choroideremia is a progressive X-linked recessive dystrophy, characterized by degeneration of the retinal pigment epithelium (RPE), choroid, choriocapillaris, and photoreceptors. We examined photoreceptor structure in a series of subjects with choroideremia with particular attention to areas bordering atrophic lesions.

Methods

Twelve males with clinically-diagnosed choroideremia and confirmed hemizygous mutations in the CHM gene were examined. High-resolution images of the retina were obtained using spectral domain optical coherence tomography (SD-OCT) and both confocal and non-confocal split-detector adaptive optics scanning light ophthalmoscope (AOSLO) techniques.

Results

Eleven CHM gene mutations (3 novel) were identified; three subjects had the same mutati

SUBMITTER: Sun LW 

PROVIDER: S-EPMC5147929 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature