Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic.

ABSTRACT:

Introduction

Retinal degenerative or inflammatory changes may occur with hereditary immunological disorders (HID) due to variants in approximately 20 genes. This study aimed to investigate if such retinopathy may present as an initial sign of immunological disorders in eye clinic.

Methods

The variants in the 20 genes were selected from in-house exome sequencing data from 10,530 individuals with different eye conditions. Potential pathogenic variants were assessed by multistep bioinformatic analysis. Pathogenic variants were defined according to the ACMG/AMP criteria and confirmed by Sanger sequencing, co-segregation analysis, and consistency with related phenotypes. Ocular clinical data were thoroughly reviewed, especially fundus changes.

Results

A total of seven path

SUBMITTER: Wang Y 

PROVIDER: S-EPMC10498122 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature