Researchers at the Casey Eye Institute in Portland, OR have been studying the role that inflammation plays in the progression of inherited retinal diseases. They hypothesize that autoimmunity initiated by gene mutations can play a role in the progression of photoreceptor cell death because they detected the presence of autoantibodies in many genetic retinal diseases. Some individuals have sudden progression and others may have asymmetric presentation; this indicates that inflammation or autoimmune response may play a role in the disease progression. Understanding the role of autoantibodies and autoantigens could potentially give the medical field better insight to predicting the rate of disease progression.
What this means for Usher syndrome: If there is an autoimmune component to retinitis pigmentosa, then it’s possible that there may be benefits in regulating the health of the immune system with respect to protecting the retina from the disease.