Researchers at the National Institutes of Health (NIH) have developed the first stem cell model of albinism that can help us better understand related eye conditions.
Albinism in humans is characterized by the absence of pigment that leads to abnormal development of the eye, including the retina and optic nerve fibers. Studies on albinism used to be conducted using animal cells. However, animal cells lack fovea, a small depression in the retina where visual acuity is highest. People with oculocutaneous albinism (OCA) have an underdeveloped fovea. Scientists hope that this "disease-in-a-dish" stem cell model of albinism will improve their understanding of albinism and enable better testing of potential therapies.
NIH National Eye Institute (NEI) staff scientist Aman George and team reported their findings in Stem Cell Reports.
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Image source: National Eye Institute (NEI)