Background and aims: Keratoconus (KC) is a degenerative eye disorder, which is leading to irregular corneal surface, thinning of cornea, changing the shape of a cone and decreased vision. The disease incidence between 1/500 to 1/2,000 people worldwide is estimated. Several genes associated with the disease have been studied, but evidence suggests a major role of visual system homeobox1 (VSX1) in the etiology of KC. The aim this study was to investigate the relationship between rs6050307 single nucleotide polymorphisms (SNP) in exon 1 of the VSX1 gene with keratoconus disease in Chaharmahal and Bakhtiari province.

Methods: In this laboratory discriptivel study, rs6050307 polymorphisms of VSX1 gene  in 100 KC patients and 100 healthy individuals have been studied. DNA was extracted using standard phenol chloroform method and rs6050307 were determined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Allele frequency of this polymorphism were analyzed using chi-square test and the relevance between allele frequency polymorphism were evaluated with the disease.

Results: Genotype distribution of diferent allels of rs6050307 VSX1 gene between patient and control samples was not significant (P>0.05).

Conclusion: Regarding to the findings in this research, it seems that rs6050307 of VSX1 gene not involved as a risk factor in the pathogenesis of keratoconus.