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Background  Mutations in  COL8A2  gene which encodes the collagen alpha-2 (VIII) chain have been identified in both familial and sporadic cases of Fuchs endothelial corneal dystrophy (FECD). Heterozygous mutations in the  SLC4A11  gene are also known to cause late-onset FECD. Therefore we screened for  COL8A2 ,  SLC4A11  gene variants in Indian FECD patients.    Methods  Eighty patients with clinically diagnosed FECD and 100 age matched normal individuals were recruited. Genomic DNA was isolated from peripheral blood leukocytes. Mutations in  COL8A2 ,  SLC4A11  coding regions were screened using bi-directional sequencing. Fischer's exact test or Pearson's chi squared test were used to predict the statistical association of genotypes with the phenotype.    Results  Screening of  COL8A2  gene revealed 2 novel c.1610G>A, c.1643A>G and 3 reported variations c.112G>A, c.464G>A and c.1485G>A. In  SLC4A11  gene, novel c.1659C>T, c.1974C>T and reported c.405G>A, c.481A>C and c.639G>A variants were identified. However all the variations in both the genes were also present in unaffected controls.    Conclusions  This is the first study analysing  COL8A2  gene in Indian patients with FECD. No pathogenic mutations were identified in  COL8A2 . Merely silent changes, which showed statistically insignificant association with FECD, were identified in the screening of  SLC4A11  gene. These results suggest that  COL8A2 ,  SLC4A11  genes may not be responsible for FECD in patients examined in this study.

Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India