Nonhuman Primate Model of Oculocutaneous Albinism with
Journal
Research (Washington, D.C.)
ISSN: 2639-5274
Titre abrégé: Research (Wash D C)
Pays: United States
ID NLM: 101747148
Informations de publication
Date de publication:
2020
2020
Historique:
received:
31
10
2019
accepted:
04
02
2020
entrez:
8
4
2020
pubmed:
8
4
2020
medline:
8
4
2020
Statut:
epublish
Résumé
Human visual acuity is anatomically determined by the retinal fovea. The ontogenetic development of the fovea can be seriously hindered by oculocutaneous albinism (OCA), which is characterized by a disorder of melanin synthesis. Although people of all ethnic backgrounds can be affected, no efficient treatments for OCA have been developed thus far, due partly to the lack of effective animal models. Rhesus macaques are genetically homologous to humans and, most importantly, exhibit structures of the macula and fovea that are similar to those of humans; thus, rhesus macaques present special advantages in the modeling and study of human macular and foveal diseases. In this study, we identified rhesus macaque models with clinical characteristics consistent with those of OCA patients according to observations of ocular behavior, fundus examination, and optical coherence tomography. Genomic sequencing revealed a biallelic p.L312I mutation in
Identifiants
pubmed: 32259106
doi: 10.34133/2020/1658678
pmc: PMC7086374
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1658678Informations de copyright
Copyright © 2020 Kun-Chao Wu et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
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