Update on the genetics of keratoconus

Exp Eye Res. 2021 Jan:202:108398. doi: 10.1016/j.exer.2020.108398. Epub 2020 Dec 13.

Abstract

In the past few years we have seen a great acceleration of discoveries in the field of keratoconus including new treatments, diagnostic tools, genomic and molecular determinants of disease risk. Recent genome-wide association studies (GWAS) of keratoconus cases and population wide studies of variation in central corneal thickness and in corneal biomechanical properties confirmed already identified genes and found many new susceptibility variants and biological pathways. Recent findings in genetic determinants of familial keratoconus revealed functionally important variants and established first mouse model of keratoconus. Latest transcriptomic and expression studies started assessing novel non-coding RNA targets in addition to identifying tissue specific effects of coding genes. First genomic insights into better prediction of treatment outcomes are bringing the advent of genomic medicine into keratoconus clinical practice.

Keywords: CXL; GWAS; Genetics; Keratoconus; Polygenic risk score; Variant.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Collagen / therapeutic use*
  • Cross-Linking Reagents / therapeutic use*
  • Genome-Wide Association Study*
  • Humans
  • Keratoconus / drug therapy
  • Keratoconus / genetics*
  • Keratoconus / metabolism
  • Photochemotherapy / methods*
  • Photosensitizing Agents / therapeutic use
  • Riboflavin / therapeutic use*
  • Ultraviolet Rays

Substances

  • Cross-Linking Reagents
  • Photosensitizing Agents
  • Collagen
  • Riboflavin