Genetics and therapy for pediatric eye diseases.
Congenital disorders
Eye organogenesis
Ocular diseases
Retinal development
Therapy
Vision impairment
Journal
EBioMedicine
ISSN: 2352-3964
Titre abrégé: EBioMedicine
Pays: Netherlands
ID NLM: 101647039
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
17
12
2020
revised:
29
03
2021
accepted:
12
04
2021
pubmed:
12
5
2021
medline:
23
11
2021
entrez:
11
5
2021
Statut:
ppublish
Résumé
Ocular morphogenesis in vertebrates is a highly organized process, orchestrated largely by intrinsic genetic programs that exhibit stringent spatiotemporal control. Alternations in these genetic instructions can lead to hereditary or nonhereditary congenital disorders, a major cause of childhood visual impairment, and contribute to common late-onset blinding diseases. Currently, limited treatment options exist for clinical phenotypes involving eye development. This review summarizes recent advances in our understanding of early-onset ocular disorders and highlights genetic complexities in development and diseases, specifically focusing on coloboma, congenital glaucoma and Leber congenital amaurosis. We also discuss innovative paradigms for potential therapeutic modalities.
Identifiants
pubmed: 33975254
pii: S2352-3964(21)00153-5
doi: 10.1016/j.ebiom.2021.103360
pmc: PMC8122153
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
103360Subventions
Organisme : Intramural NIH HHS
ID : ZIA EY000450
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA EY000546
Pays : United States
Informations de copyright
Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of Competing Interest All authors declare that they have no competing interests.