Abstract
Purpose :
To investigate the RPE65 mutation frequency in Chinese population and the genetic and clinical characteristics of these patients.
Methods :
A total of 1434 inherited retinal disease (IRD) patients and their available family members (total participants: 3576) were recruited. They were screened using multigene panel testing, followed by complete clinical evaluations. The phenotypic and genotypic information of all patients of China origin with RPE65 mutations in prior reports was reviewed and analyzed.
Results :
Only 20 patients with RPE65 mutations were identified, they were placed as the14th among all the patients. Twelve novel variants, two hot spots associated with FAP and ten likely ‘LCA disease-specific’ variants were identified. Literatures review displayed that a total of 57 patients of Chinese origin were identified with pathogenic mutations in RPE65 gene. The mean best Snellen corrected visual acuity was worse (mean 0.05 ± 0.05) in patients older than 20 years old than in those younger than 15 years old (0.21 ± 0.12). Bone-spicule-like pigment deposits (BSLP) were observed in six patients, they were older than those without BSLP, and those with white-yellow dots (WYD). Genotype-phenotype analysis reveals that truncating variants seem to lead to a more severe clinical presentation, while BCVA and fundus changes did not correlate with specific RPE65 variants or mutation types.
Conclusions :
This study provides detailed clinical-genetic assessment of patients with RPE65 mutations of Chinese origin, which enriched our understanding of RPE65 mutations in the Chinese population, and will facilitate genetic counseling and implementation of gene therapy in China.
This is a 2020 ARVO Annual Meeting abstract.