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Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

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VSX1 gene analysis in keratoconus.

Mukesh Tanwar¹, Manoj Kumar, Bhagabat Nayak

¹Laboratory For Molecular Reproduction and Genetics, Department of Anatomy, Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

Molecular Vision

|December 9, 2010

Summary

This summary is machine-generated.

This study screened the visual system homeobox 1 (VSX1) gene in keratoconus patients, finding no pathogenic mutations. The results suggest VSX1 plays a minimal role in keratoconus pathogenesis, with other genetic factors likely involved.

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Area of Science:

Ophthalmology
Genetics
Molecular Biology

Background:

Keratoconus is a progressive eye condition affecting corneal shape.
The visual system homeobox 1 (VSX1) gene has been investigated for its potential role in keratoconus.
Genetic factors are implicated in the development of keratoconus.

Purpose of the Study:

To screen the complete coding region of the VSX1 gene for mutations in patients with keratoconus.
To compare VSX1 gene sequences between keratoconus cases and healthy controls.

Main Methods:

Sequencing of the entire coding region and intron-exon boundaries of the VSX1 gene.
Analysis of 50 keratoconus cases and 50 control subjects.
Comparison of identified sequences against the ensemble reference sequence for VSX1.

Main Results:

Four alterations were identified in the VSX1 gene: p.A182A, p.R217H, p.P237P, and g.25059612C>T.
A novel alteration, g.25059612C>T in intron 2, was discovered.
p.A182A and p.P237P were found in both cases and controls; p.R217H and g.25059612C>T were exclusive to cases, but all were non-pathogenic.

Conclusions:

No pathogenic mutations in the VSX1 gene were detected in the studied keratoconus patients.
The findings indicate that VSX1 mutations are unlikely to be a major cause of keratoconus.
The pathogenesis of keratoconus may involve other genetic loci, such as 13q32, rather than VSX1.