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

Katy Pallister

Writer

Katy is a freelance science educator, presenter, writer and producer based in London. She is a former Engagement and Events Officer at the MRC LMS.

• Image from work by Aman George and colleagues, National Eye Institute, NIH
• Pediatric Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
• Image copyright held by the original authors
• Research published in Stem Cell Reports, January 2022