19 January 2022
Researchers have created a stem cell model of oculocutaneous albinism (OCA).
The development could help scientists to gain insight into the effect of genetic conditions that influence pigmentation on the eye.
OCA patients typically display reduced best corrected visual acuity and ocular pigmentation as well as abnormalities in fovea development and irregular decussation of optic nerve fibres.
Describing their research in Stem Cell Reports, the authors highlighted that it has been hypothesised that restoring pigmentation could prevent or rescue some of the vision defects in OCA.
“The goal of the present study was to develop an in vitro model for studying pigmentation defects in human retinal pigment epithelium,” they shared.
Lead author, Dr Aman George, of the National Eye Institute in the US, explained: “This 'disease-in-a-dish' system will help us understand how the absence of pigment in albinism leads to abnormal development of the retina, optic nerve fibres, and other eye structures crucial for central vision.”
Fellow study author, Brian Brooks, highlighted that the model is an important step forward in understanding albinism and developing potential therapies.
"Treating albinism at a very young age, perhaps even prenatally, when the eye's structures are forming, would have the greatest chance of rescuing vision," he shared.
“In adults, benefits might be limited to improvements in photosensitivity, for example, but children may see more dramatic effects,” Brooks added.
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