Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.

ABSTRACT:

Background

Inherited eye disorders are a significant cause of vision loss worldwide. According to the World Health Organization (WHO) estimates approximately 2.2 billion people have some degree of vision loss, but a significant proportion of these are blind since early childhood. Due to poor infrastructure for genetic diagnosis, many affected families remain genetically unexplained in underdeveloped countries, including Pakistan.

Methods

In this study, we utilized homozygosity mapping and exome sequencing to identify the genetic basis of the vision loss in four Kashmiri families that were presented with different types of eye disorders. We also performed quantitative reverse transcriptase-PCR (qRT-PCR) and measured the relative mRNA abundance of ALMS1 in blood cells of patie

SUBMITTER: Jarral A 

PROVIDER: S-EPMC12432420 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature