Beuy Joob1, Viroj Wiwanitkit2. 1. Medical Center, Sanitation 1 Medical Academic Center, Bangkok, Thailand. 2. Department of Community Medicine, Dr DY Patil University, Navi Mumbai, Maharashtra, India.
Sir,The report from Iran on “VSX1 and SOD1 mutation screening in patients with keratoconus” is interesting.[1] Nejabat et al concluded that “it will be necessary to investigate other chromosomal loci for potential causal mutations of keratoconus using next generation sequencing (NGS) methods in our population.[1]” Nejabat et al observed that “Mutations in VSX1 and SOD1 genes associated with keratoconus were not identified” in their patients.[1] In fact, the negative observation might be because of the small sample size used for detecting focused genetic abnormalities. Other possible genetic polymorphisms or mutations[23] associated with keratoconus were not studied by Nejabat et al.[1] In addition, epigenetic factors can also contribute significantly to keratoconus pathogenesis.[4] Finally, there is ambiguity regarding the details of the quality control of the laboratory tests. A discussion on laboratory errors or false positivity due to analytical problems should be included.