"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".

ABSTRACT:

Background and objectives

The EYS gene is an important cause of autosomal recessive retinitis pigmentosa (arRP). The objective of this study is to report on novel pathogenic variants in EYS and the range of associated phenotypes.

Subjects and methods

This retrospective case series at a tertiary referral centre for inherited retinal diseases describes patients with an IRD and at least two variants in the EYS gene. Phenotyping included multimodal retinal imaging; genotyping molecular genetic analysis using targeted next generation sequencing. Sanger sequencing verification and analysis of novel variants using in silico approaches to determine their predicted pathogenicity.

Results

Eight male and four female patients were included. Age at onset ranged from 11 to 62 years

SUBMITTER: Cundy O 

PROVIDER: S-EPMC8182807 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature