Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

ABSTRACT:

Background

Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea.

Methods

Medical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD.

Results

Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8

SUBMITTER: Kim MS 

PROVIDER: S-EPMC6543061 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature