Biallelic loss-of-function variants in <i>C19orf44</i> lead to retinal degeneration.

ABSTRACT:

Background

Inherited retinal diseases (IRDs) are a group of disorders often resulting in progressive vision loss, ultimately leading to blindness. A significant portion of their genetic causes remain unresolved, partly due to undiscovered disease-associated genes or variants. This study aimed to identify novel genetic links to IRDs.

Methods

All patients underwent comprehensive ophthalmological evaluation, including retinal imaging (fundus autofluorescence and macular optical coherence tomography) and electroretinogram testing. Whole exome sequencing and whole genome sequencing were performed on patients with clinically unsolved IRD, and data were analysed using an in-house pipeline to identify causal variants. Subsequently, Sanger sequencing was performed to confirm identifi

SUBMITTER: Hussain HMJ 

PROVIDER: S-EPMC12358183 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature