Are the genetics of birdshot related to iron overload in the eye?

Overview

Birdshot uveitis is a rare, long-term form of inflammation in the back of the eye. It usually affects people in middle age, most often white women aged 40-60.

We don’t know exactly what goes wrong in birdshot but almost everyone with the condition has a particular version of the immune system gene HLA-A*29. Researchers have also recently found that one version of this gene is linked to a glitch in another gene (called H63D) that leads to iron overload in the body.

Iron is essential in the retina for the light-sensitive photoreceptors cells to work. The amount of iron is controlled by proteins that regulate it. But excess iron builds up in the retina, both as part of normal ageing and in age-related macular degeneration. Too much iron is very toxic to photoreceptors, leading to damage and cell death, and also affects the immune system.

The research team thinks that iron overload may be related to birdshot and so in this project they will study the genetic variations in HLA-A*29 to find out more about any links. If iron overload is related to birdshot it could lead to a new treatment option, as therapy for iron overload is already available.

Find out more about Birdshot Uveitis Society