Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

ABSTRACT:

Purpose

To characterize and bring awareness to the disease spectrum of female choroideremia patients, as severity can vary from mild to severe disease, comparable to that observed in male patients.

Design

Retrospective cohort study.

Methods

Twelve female carriers of disease-causing variants in the CHM gene confirmed by molecular genetic sequencing were characterized clinically and imaged with short-wave fundus autofluorescence (SW-FAF), spectral-domain optical coherence tomography (OCT), and color fundus imaging.

Results

Twelve unrelated female patients with a clinical and genetic diagnosis of choroideremia carriers were included in this study. Disease severity among these phenotypes ranged from mild to severe, resembling the typical presentation of choroiderem

SUBMITTER: Jauregui R 

PROVIDER: S-EPMC7579725 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature