Research progress of keratoconus-related genes and corneal traits

Keratoconus is a noninflammatory degenerative corneal disease that occurs most commonly in adolescent due to progressive thinning of the corneal stroma, typically characterized by highly irregular astigmatism, leading to severe visual impairment.In recent years, with the development of molecular biology, genetic research on keratoconus is gradually increasing.A large number of studies have found that the mutation of some nuclear genes and the release of inflammatory mediators may be closely related to keratoconus.Early phase or subclinical keratoconus generally has only the performance for myopic astigmatism and mild corneal slight lordosis, which are not typical clinical manifestations, so the diagnosis is difficult.By observing the corneal morphology of parental family members of patients with keratoconus, it is found that the probability of corneal morphology abnormality in parental family members is higher than that in control groups.Pentacam corneal topography was used to determine the corneal characteristics of the patients’ parents and to evaluate corneal curvature, corneal thickness and posterior corneal surface elevation, showing that there is a correlation between corneal characteristics and genetic factors.This article reviews the heritability of genes and corneal characteristics in patients with keratoconus.

KEYWORDS：

Keratoconus;Genes;Genetics;Corneal traits