New cataract markers: Mechanisms of disease.

Xiangjia Zhu, Shaohua Zhang, Ruiqi Chang, Yi Lu

Journal: Clinica chimica acta; international journal of clinical chemistry 2018;472():41-45

PMID: 28705775

Full Text on Elsevier Science View on PubMed

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.

Address: Department of Ophthalmology, Eye and Ear, Nose, and Throat Hospital, Fudan University, 83 Fenyang Road, Shanghai 200031, People's Republic of China; Eye Institute, Eye and Ear, Nose, and Throat Hospital of Fudan University, 83 Fenyang Road, Shanghai 200031, People's Republic of China; Key Laboratory of Myopia, Ministry of Health, Shanghai 200031, People's Republic of China; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, People's Republic of China.; Department of Ophthalmology, Eye and Ear, Nose, and Throat Hospital, Fudan University, 83 Fenyang Road, Shanghai 200031, People's Republic of China; Eye Institute, Eye and Ear, Nose, and Throat Hospital of Fudan University, 83 Fenyang Road, Shanghai 200031, People's Republic of China; Key Laboratory of Myopia, Ministry of Health, Shanghai 200031, People's Republic of China; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, People's Republic of China. Electronic address: [email protected].

DOI: 10.1016/j.cca.2017.07.010

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MeSH Terms: Cataract, Genetic Markers, Humans, Mutation, Precision Medicine