Email updates

Keep up to date with the latest news and content from BMC Research Notes and BioMed Central.

Open Access Research article

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

Anshuman Verma1, Manoranjan Das2, Muthiah Srinivasan2, Namperumalsamy V Prajna2 and Periasamy Sundaresan1*

Author Affiliations

1 Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India

2 Cornea Clinic, Aravind Eye Hospital, Madurai, Tamil Nadu, India

For all author emails, please log on.

BMC Research Notes 2013, 6:103  doi:10.1186/1756-0500-6-103

Published: 18 March 2013



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.


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.


In the VSX1 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.


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.

KTCN - Keratoconus; VSX1 - Visual system homeobox 1; SNP - Single nucleotide polymorphism