Exploratory whole-exome sequencing identifies candidate DNA variants in Ocular Behcet disease: a pilot study from a Pakistani cohort

Ocular Behcet disease (OBD) is a severe sight-threatening complication of Behcet disease (BD) with a poorly understood etiology, particularly in underrepresented populations such as Pakistan. It often arises from a combination of genetic predisposition, environmental triggers, and immune dysregulation. To address this gap, we explored genetic variants contributing to ocular involvement using whole-exome sequencing (WES). Eleven clinically diagnosed BD patients were recruited, including ten with ocular symptoms such as uveitis, diplopia, and optic nerve involvement. WES was performed on five individuals, and rare, potentially damaging nonsynonymous variants were prioritized using in silico tools and annotated through ClinVar, MalaCards, GeneCards, and HGMD. Seventeen genes were found associated with ocular manifestations. Pathway enrichment (ClueGO) and regulatory variant analysis (RegulomeDB, score