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Abstract
Inherited Ocular Dystrophies comprise a heterogeneous group of rare and complex diseases commonly caused by gene mutations, resulting in progressive degeneration of various structures within the eye including the retina, cornea, lens, and other parts. Approximately one in 1000 people worldwide have genetic eye diseases. This research aimed to investigate the genetic causes of inherited ocular diseases in families from District Haripur. Families with at least two individuals diagnosed with inherited ocular disorders (IODs) were identified and tested through the Shifa Eye Foundation. Saliva samples were collected from patients, their parents, and at least one healthy sibling to serve as a control. Genomic DNA was extracted from these saliva samples, and whole exome sequencing (WES) was performed on one individual per family. The WES data were then filtered using computational methods. A total of ten IOD families from various localities within District Haripur were studied, and consanguinity was observed in all these families. Pathogenic mutations were identified in six families, resulting in a diagnosis success rate of 60%. In total, 16 deleterious alleles across six different genes were found. Most of these mutations were non-synonymous, stop gain or frameshift, and most were homozygous. Due to the high rate of consanguinity in the region, this study indicates that homozygous harmful mutations predominantly characterize the genetic profile of IODs in District Haripur.