A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

ABSTRACT:

Background

Inherited retinal degenerations (IRDs) are a group of rare genetic conditions affecting retina of the eye that range in prevalence from 1 in 2000 to 1 in 4000 people globally. This review is based on a retrospective analysis of research articles reporting IRDs associated genetic findings in Pakistani families between 1999 and April 2023.

Methods

Articles were retrieved through survey of online sources, notably, PubMed, Google Scholar, and Web of Science. Following a stringent selection criterion, a total of 126 research articles and conference abstracts were considered. All reported variants were cross-checked and validated for their correct genomic nomenclature using different online resources/databases, and their pathogenicity scores were explained as per ACMG g

SUBMITTER: Munir A 

PROVIDER: S-EPMC10840256 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature