Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.

ABSTRACT:

Background

Choroideremia (CHM) is an X-linked degeneration of the retinal pigment epithelium, photoreceptors, and choroid, which causes nyctalopia and progressive constriction of visual fields leading to blindness. The CHM gene encodes Rab escort protein 1 (REP-1). In this work, we reviewed the phenotypes and genotypes of affected males with the purpose of understanding the functional effects of CHM mutations and their relationship with the phenotypes.

Methods

A retrospective review of 128 affected males was performed analyzing the onset of symptoms, visual acuity, and visual fields with respect to their mutations in the CHM gene.

Results

In rank order, reflecting data from this report, the most common mutations found in the CHM gene were nonsense mutations (41%), exo

SUBMITTER: Freund PR 

PROVIDER: S-EPMC4867567 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature