ArticleStem cell reports2022
In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium.
Article in Stem cell reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Gene therapy induces pigmentation in induced pluripotent stem cell-derived retinal pigment epithelium of OCA1A patients and albino rat eye.Molecular therapy. Advances · 2026Article
- TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.Investigative ophthalmology & visual science · 2025Article
- From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.PLoS genetics · 2025Article
- Specialised features of melanosomes in health and disease in the retinal pigment epithelium.Frontiers in cell and developmental biology · 2025Review
- Advances in the engineering of the outer blood-retina barrier: From in-vitro modelling to cellular therapy.Bioactive materials · 2024Review
- Medium Depth Influences O2 Availability and Metabolism in Human RPE Cultures.Investigative ophthalmology & visual science · 2023Article
- A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.Investigative ophthalmology & visual science · 2023Article
- Customized strategies for high-yield purification of retinal pigment epithelial cells differentiated from different stem cell sources.Scientific reports · 2022Article
- TheGenes · 2022Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Oculocutaneous albinism (OCA) encompasses a set of autosomal recessive genetic conditions that affect pigmentation in the eye, skin, and hair. OCA patients display reduced best-corrected visual acuity, reduced to absent ocular pigmentation, abnormalities in fovea development, and/or abnormal decussation of optic nerve fibers. It has been hypothesized that improving eye pigmentation could prevent or rescue some of the vision defects. The goal of the present study was to develop an in vitro model for studying pigmentation defects in human retinal pigment epithelium (RPE). We developed a "disease in a dish" model for OCA1A and OCA2 types using induced pluripotent stem cells to generate RPE. The RPE is a monolayer of cells that are pigmented, polarized, and polygonal in shape, located between the neural retina and choroid, with an important role in vision. Here we show that RPE tissue derived in vitro from OCA patients recapitulates the pigmentation defects seen in albinism, while retaining the apical-basal polarity and normal polygonal morphology of the constituent RPE cells.
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