Eye health

There are no current treatments for the eye problems seen in albinism, a condition that causes lack of pigment in the skin, hair and eyes. Finding a treatment to improve eyesight in albinism is a WHO priority.

In people with albinism, a chemical called 'L-DOPA', which is vital for eye development, is missing from the eye. Light-detecting cells, or receptors, that serve the L-DOPA chemical do not function properly in some types of albinism. Dr Helena Lee and her team from the University of Southampton are working to develop new treatments that do not rely on L-DOPA receptors. A protein called 'pigment epithelial derived growth factor (PEDF)' works downstream of a key L-DOPA receptor, meaning that it could be a more effective treatment option for people with albinism and visual impairments.

Alongside this, the team has developed a method to simultaneously test multiple medicines for albinism.

Mutations in a gene called Tyrosinase (TYR) cause albinism. Dr Lee's group have created a new test using modified human cells to examine albinism treatments. When the TYR gene is introduced, the modified human cells pigment, while cells with a TYR gene mutation produce significantly less pigment. Using this approach, Dr Lee has tested almost 1,000 FDA-approved medicines, identifying several promising candidates to develop and/or fast-track, alongside PEDF, to clinical trials.