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Purpose: Three genes VSX1, HGF and LOX have been previously reported to be causative of keratoconus (KC) in different populations. In the current study we investigated the role of these genes in three autosomal recessive Pakistani families and 100 sporadic KC cases from Pakistan. Methods: Mutation analysis of VSX1 gene was done by Sanger sequencing of three KC families, while 100 sporadic cases including...