Scientists from The University of Manchester have taken an essential step toward finding a treatment for age-related macular degeneration (AMD), the most common form of adult blindness.
The researchers were able to identify early signs of the disease which could be targeted by new treatments before symptoms develop.
The research is published in PNAS and was conducted by Paul Bishop et al.
Scientists have long known that people with certain genes on chromosomes 1 and 10 have a 2- to 3-fold higher risk of developing AMD, although lifestyle factors also play a role.
In the study, the team found higher numbers of “mast cells” in the eyes of people when either of the risk genes was present, even when there were symptoms, suggesting an early mechanism in common.
They also showed that mast cells release enzymes in the back of the eye which then damage structures underneath the retina that in time are likely to damage the retina itself.
Mast cells exist in most tissues and are one of the immune system’s first defenses against infection, especially parasitic disease and damage.
Scientists already know there are more mast cells in the choroid in people with established AMD. The current study identified higher levels in people before the disease develops.
The genes on chromosome 1 are linked to a part of the immune system called the complement cascade, which is associated with a risk of AMD.
Though the functional role of genes expressed by chromosome 10 is not known but increased the risk of AMD is.
The team says the study examined eye tissue from people before they have signs of the disease.
This gives them a look into the very earliest stages and gives them hope that doctors can intervene to stop the disease from developing and ultimately prevent loss of vision.
The researchers next need to look at how mast cells are activated, and whether by preventing, or clearing mast cell activation we can slow or stop disease development.
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