New cataract markers: Mechanisms of disease

Clin Chim Acta. 2017 Sep:472:41-45. doi: 10.1016/j.cca.2017.07.010. Epub 2017 Jul 10.

Abstract

Cataract is caused by nutritional, metabolic, environmental, and genetic factors, and is a significant cause of blindness and visual impairment. In recent years, extensive research into the human genome has revealed that numerous genetic mutations are associated with cataract. These mutations affect a variety of genes, including those encoding crystallin, membrane proteins, cytoskeletal proteins, transcription factors, and metabolism-related proteins. Elucidation of these mutations and the genetic and molecular mechanisms has helped clarify the etiology of cataract and may facilitate its early diagnosis and treatment. This review summarizes recent advances in our knowledge and potential clinical of genetic markers of cataract.

Keywords: Cataract; Gene mutation; Markers; Mechanism.

Publication types

  • Review

MeSH terms

  • Cataract / diagnosis
  • Cataract / genetics*
  • Genetic Markers* / genetics
  • Humans
  • Mutation
  • Precision Medicine

Substances

  • Genetic Markers