Looking for a signature pattern in the blood to help diagnose albinism

Research details

  • Type of funding: Fight for Sight Small Grant Award
  • Grant Holder: Mr Kamron Khan
  • Institute: University of Leeds
  • Region: North East
  • Start date: January 2017
  • End Date: October 2018
  • Priority: Early detection
  • Eye Category: Childhood-onset


Albinism the general name for a group of conditions in which babies are born with too little melanin. This is the pigment that gives skin, eyes and hair their colour. Melanin also plays a vital role in the eye, where it absorbs excess light. So a lack of melanin is one of several problems that affect vision in people with albinism.

We know of at least 7 types of albinism that are due to faults in different genes, and there are still more genes to be found. This has meant that there is no single test that can give families a specific and definite diagnosis. It also makes it harder to develop treatment.

There is some evidence that the visual symptoms linked to melanin can be treated if it starts early enough, because the eye continues to develop after babies have been born. So in this project the team will try to develop a simple blood test that can pick up the hallmark signs of chemical processes in the body as it tries to make melanin. Having a test like this could allow researchers to start developing targeted treatment to improve vision for people with albinism.