Abstract
Keratoconus (KC) is a progressive corneal disease of complex etiology with strong evidence for genetic susceptibility. Genome-wide linkage studies (GWLS) in families and genome-wide association studies (GWAS) in case-control panels identified more than two dozen genes involved in KC susceptibility. Application of these recently developed comprehensive genetic tools has led to much greater success and increased reproducibility of genetic findings in KC. Next-generation sequencing (NGS)-based genomic screens are currently being carried out in familial cases. Population-wide, genome-wide screens of variation in central corneal thickness (CCT) have helped identify additional KC susceptibility genes and biological pathways. A number of KC genes are also involved in other multisystem genetic disorders and ocular syndromes. Transcriptomic and expression studies have identified tissue-specific effects of KC genes and noncoding RNAs (such lncRNA and microRNAs). Implementation of genetic insights into clinical practice includes assessing correlation between expression levels of certain genes and treatment outcomes and potential genetic predisposition to the adverse effects. We are also entering a new era of using polygenic risk scores to predict diagnosis and progression of KC.
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