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Genetics of keratoconus
Author(s) -
SOLER V,
CASSAGNE M,
FOURNIE P,
MALECAZE F
Publication year - 2012
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2012.4231.x
Subject(s) - keratoconus , family aggregation , cornea , disease , genetic architecture , medicine , corneal diseases , trait , biology , genetics , optometry , ophthalmology , quantitative trait locus , pathology , gene , computer science , programming language
Keratoconus (KC) is a vision‐threatening condition characterized by thinning and deformation of the cornea. It is one of the most common indications for corneal grafting in industrialized countries. The disease prevalence is approximately 1 in 2000. Familial aggregation, together with increased familial risk, suggests important genetic influences on its pathogenesis. To date, it has been shown that several genomic regions are linked to KC rare familial forms but no genes have been identified as responsible for common KC. Aside from genetic determinants, environmental stresses such as eye rubbing or atopy have been suggested as possible causes or aggravating factors in KC. The interaction of genetics and environmental factors in diseases occurrence contributes to the development of complex and multifactorial trait, such as KC. And, despite the many attempts to reveal KC pathophysiology, the mechanisms leading to its corneal characteristics and vision impairment are still poorly understood. In this presentation, we will discuss all works that have been achieved on keratoconus pathophysiology and we will consider future directions on this topic.