Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus

Abstract

Keratoconus (KC; Mendelian Inheritance in Man (OMIM) 14830) is a bilateral, progressive corneal defect affecting all ethnic groups around the world. It is the leading cause of corneal transplantation. The age of onset is at puberty, and the disorder is progressive until the 3 rd -4 th decade of life when it usually arrests. It is one of the major ocular problems with significant social and economic impacts as the disease affects young generation. Although genetic and environmental factors are associated with KC, but the precise etiology is still elusive. Results from complex segregation analysis suggests that genetic abnormalities may play an essential role in the susceptibility to KC. Due to genetic heterogeneity, a recent study revealed 17 different genomic loci identified in KC families by linkage mapping in various populations. The focus of this review is to provide a concise update on the current knowledge of the genetic basis of KC and genomic approaches to understand the disease pathogenesis.

Keywords

• Epidemiology
• keratoconus
• prevalence
• Disease pathogenesis
• genetic heterogeneity
• genetics and genomics
• genome-wide association study
• genomic loci
• keratoconus
• linkage mapping
• molecular mechanisms
• whole exome-genome sequencing