Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches.
embryology and development
genetics
lens and zonules
Journal
The British journal of ophthalmology
ISSN: 1468-2079
Titre abrégé: Br J Ophthalmol
Pays: England
ID NLM: 0421041
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
25
09
2019
revised:
20
11
2019
accepted:
28
01
2020
pubmed:
29
3
2020
medline:
20
2
2021
entrez:
29
3
2020
Statut:
ppublish
Résumé
Cataract is the most common cause of blindness in the world; during infancy and early childhood, it frequently results in visual impairment. Congenital cataracts are phenotypically and genotypically heterogeneous and can occur in isolation or in association with other systemic disorders. Significant progress has been made in identifying the molecular genetic basis of cataract; 115 genes to date have been found to be associated with syndromic and non-syndromic cataract and 38 disease-causing genes have been identified to date to be associated with isolated cataract. In this review, we briefly discuss lens development and cataractogenesis, detail the variable cataract phenotypes and molecular mechanisms, including genotype-phenotype correlations, and explore future novel therapeutic avenues including cellular therapies and pharmacological treatments.
Identifiants
pubmed: 32217542
pii: bjophthalmol-2019-315282
doi: 10.1136/bjophthalmol-2019-315282
doi:
Substances chimiques
Aquaporins
0
Connexins
0
Crystallins
0
Cytoskeletal Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1331-1337Subventions
Organisme : Wellcome Trust
ID : 099173/Z/12/Z
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.