Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.

ABSTRACT:

Background

The retinoid isomerohydrolase RPE65 has received considerable attention worldwide since a successful clinical gene therapy was approved in 2017 as the first treatment for vision loss associated with RPE65-mediated inherited retinal disease. Identifying patients with RPE65 mutations is a prerequisite to assessing the patients' eligibility to receive RPE65-targeted gene therapies, and it is necessary to identify individuals who are most likely to benefit from gene therapies. This study aimed to investigate the RPE65 mutations frequency in the Chinese population and to determine the genetic and clinical characteristics of these patients.

Results

Only 20 patients with RPE65 mutations were identified, and RPE65 mutations were determined to be the 14th most common among

SUBMITTER: Gao FJ 

PROVIDER: S-EPMC8097799 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature