Open AccessGenetic and genomic perspective to understand the molecular pathogenesis of keratoconus
Author(s) -
Nallathambi Jeyabalan,
Rohit Shetty,
Arkasubhra Ghosh,
Venkata Ramana Anandula,
Govindasamy Kumaramanickavel
Publication year - 2013
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.116055
Subject(s) - keratoconus , medicine , perspective (graphical) , pathogenesis , genetics , computational biology , bioinformatics , ophthalmology , biology , immunology , cornea , artificial intelligence , computer science
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.