Abstract
Purpose: To screen the visual system homebox 1 (VSX1) gene in Saudi Arabian keratoconus patients.
Methods: We sequenced the entire coding region, exon-intron boundaries in clinically confirmed keratoconus patients (n=55) and 50 ethnically matched healthy controls. All cases and controls were unrelated. Results: Sequencing VSX1 revealed the presence of five nucleotide changes, 3 of which were non-coding (g. 8326 G > A, g. 10945 G > T, and g. 11059 A > C) and 2 were synonymous-coding sequence changes (g. 5053 G > T and g. 8222 A > G). All five sequence changes were benign polymorphisms with no apparent clinical significance.
Conclusions: In our keratoconus cohort, no pathogenic VSX1 mutation(s) were identified.