Medical Research Council - London Institute of Medical Sciences

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Eye Spy

Stem cell-derived model allows study of oculocutaneous albinism mechanisms and treatments

31 March 2022

Eye Spy

Oculocutaneous albinism (OCA), the most common type of albinism, is a group of inherited disorders where the pigment melanin is barely produced, or in some cases not at all. This results in very light hair, skin and eyes and other vision problems. In particular, the development of the retinal pigment epithelium, a single-layer of cells that prevents the scattering of light, is affected. Scientists believe that the lack of pigmentation in this structure could be the cause of other vision defects, including misrouted optic nerve fibres and an underdeveloped fovea, an area in the retina critical for central vision. Using animal models to study this further has proven problematic as they lack foveae. Therefore, scientists have created the first stem cell model of albinism (pictured) by reprogramming skin cells from people with the most prevalent types of OCA. This model can be differentiated into the desired eye cells for greater exploration of treatments.

Written by Katy Pallister

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