Clinical and Genetic Findings in Korean Patients with Choroideremia.

ABSTRACT:

Purpose

We share and analyze the clinical presentations and genotypes of Korean male patients and female carriers who visited our clinic.

Methods

Six male patients and three female carriers with comprehensive ophthalmic examinations and next-generation sequencing were included. Detailed clinical features were identified using visual field (VF) test and multimodal imaging including color fundus photography, fundus autofluorescence (FAF), and optical coherence tomography (OCT).

Results

Six male patients were diagnosed with choroideremia at the median age of 25 years. Before genetic testing, three patients (50.0%) were clinically diagnosed with choroideremia, while the other three patients (50.0%) with retinitis pigmentosa. Patients showed different types of hemizygous C

SUBMITTER: Jo WG 

PROVIDER: S-EPMC10427899 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature