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Background  The involvement of  VSX1  gene for the genetic basis of keratoconus is unclear and controversial. The genetic screening of  VSX1  from different ethnic populations can enlighten this subject. The aim of the present study is to investigate the role of  VSX1  gene in patients with sporadic cases of keratoconus from South India.    Methods  The  VSX1  gene coding regions, including exon-intron boundaries were screened by direct sequencing analysis in 117 sporadic cases of keratoconus. The identified variations were also analyzed in 108 ethnic matched healthy blood donors.    Results  In the  VSX 1 gene screening, no pathogenic mutation was identified, whereas we could find the presence of four reported single nucleotide polymorphisms; c.546A>G (rs12480307), c.627+23G>A (rs6138482), c.627+84T>A (rs56157240) and c.504-24C>T (IVS3-24C) .  These variations were observed in similar frequency between cases and controls.    Conclusions  The lack of  VSX1  pathogenic variations in a large number of unrelated sporadic keratoconus patients tend to omit its role, and corroborate the involvement of other genetic, environmental or behavioural factors in the development of this complex disorder.

Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus