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Evaluating the association between VSXI mutation with keratoconus and the granular corneal dystrophy in an Iranian family

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Session Details

Session Title: Presented Poster Session: Cornea III

Venue: Poster Village: Pod 2

First Author: : H.Aghamollaei IRAN

Co Author(s): :    K. Jadidi   A. Mosavi   S. Morovvati   F. Nejat     

Abstract Details


To evaluate association between mutations in the visual system homeobox 1 (VSX1) gene and keratoconus (KCN) and Granular Corneal dystrophy (GCD), direct sequencing was performed in an Iranian family affected by KCN and GCD in four generations.


Baqiyatallah University of medical sciences, Tehran, Iran


In an Iranian pedigree, 16 patients (8 females and 8 males) suffering from by KCN and GCD was identified in four generation. Genomic DNA was extracted from whole blood samples. To study the possible linkage between KCN and GCD, the entire coding region and intron-exon boundaries of VSX1 gene was amplified by PCR in each sample. Subsequently, PCR products were subjected to direct sequencing and mutation analysis was conducted in the patients and controls.


Mutation analysis in VSX1 gene did not detect evidence for association between KCN and GCD diseases and VSX1 gene. Our data excluded VSX1 as the disease-causing gene for KCN/GCD in this specific pedigree.


Despite of no association between KCN patients with GCD and VSX1 gene variations, other probable genes involved in pathogenesis of the KCN and GCD diseases need to be investigated in the patients.

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