The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.

ABSTRACT:

Purpose

We report the underlying genotype and explore possible genotypic-phenotypic correlations in a large cohort of choroideremia patients.

Methods

We studied prospectively a cohort of 79 patients diagnosed within a tertiary referral service for patients with retinal dystrophies. Phenotypic evaluation consisted of clinical examination, including visual acuity and residual retinal area by fundus autofluorescence (FAF). Genotype was established by sequencing. We also investigated whether particular genotypes were associated with more severe phenotypes by performing analysis of covariance (ANCOVA), with visual acuity and FAF as the dependent variables and age as the covariant.

Results

A total of 74 (94%) of patients in our cohort had causative mutations by sequencing,

SUBMITTER: Simunovic MP 

PROVIDER: S-EPMC5102569 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature