ArticleResearch (Washington, D.C.)2020
Nonhuman Primate Model of Oculocutaneous Albinism with
Article in Research (Washington, D.C.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish.Pigment cell & melanoma research · 2026Article
- Rhesus macaques with anProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Generation and ophthalmological characterization of oculocutaneous albinism type 1 pig models by selection-free genome editing.Scientific reports · 2025Article
- TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.Investigative ophthalmology & visual science · 2025Article
- Genetic variants in melanogenesis proteins TYRP1 and TYR are associated with the golden rhesus macaque phenotype.G3 (Bethesda, Md.) · 2023Article
- Retinal organoids derived from rhesus macaque iPSCs undergo accelerated differentiation compared to human stem cells.Cell proliferation · 2022Article
- In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium.Stem cell reports · 2022Article
- Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.Human genetics · 2021Article
- Article
- Generation of Nonhuman Primate Model of Cone Dysfunction throughMolecular therapy. Methods & clinical development · 2020Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.