Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
Issued Date
2022-12-01
Resource Type
eISSN
20452322
Scopus ID
2-s2.0-85143911351
Pubmed ID
36513702
Journal Title
Scientific Reports
Volume
12
Issue
1
Rights Holder(s)
SCOPUS
Bibliographic Citation
Scientific Reports Vol.12 No.1 (2022)
Suggested Citation
Suvannaboon R., Pawestri A.R., Jinda W., Tuekprakhon A., Trinavarat A., Atchaneeyasakul L.o. Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study. Scientific Reports Vol.12 No.1 (2022). doi:10.1038/s41598-022-26017-0 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/86368
Title
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
Author's Affiliation
Other Contributor(s)
Abstract
Retinitis pigmentosa (RP) affects 1:5000 individuals worldwide. Interestingly, variations in 271 RP-related genes are indicated to vary among populations. We aimed to evaluate the genetic prevalence and phenotypic profiles of Thai patients with RP. The clinical and whole exome sequencing data of 125 patients suggestive of inherited retinal diseases (IRD), particularly non-syndromic RP, were assessed. We found a total of 258 variants (63% of which remained unavailable in the ClinVar database) in 91 IRD-associated genes. Among the detected genes, the eyes shut homolog (EYS) gene showed the highest prevalence. We also provide insights into the genotypic, baseline, and follow-up clinical presentations of seven patients with disease-causing EYS variations. This study could provide comprehension of the prevalence of RP-related genes involved in the Asian population. It might also provide information to establish advanced and personalised therapy for RP in the Thai population.