Genetic Link to Dry Macular Degeneration

A study published in the New England Journal of Medicine has identified a link between a mutation of an immune receptor known as TLR3 and dry macular degeneration known as geographic atrophy.  Macular degeneration is an untreatable and progressive disease that can cause blindness. The joint study was led by Dr. Jayakrishna Ambati, University of Kentucky, Dr. Kank Zhang, University of California San Diego and Nicholas Katsanis, The Johns Hopkins University School of Medicine.   With the discovery of the genetic marker for dry macular degeneration, treatments may be on the horizon.

With the discovery of the gene specifically linked to dry macular degeneration, there is now a possibility to develop treatments for this form of the eye disease. The researchers first discovered a relationship between a mutated form of TLR3 and decreased ocular cell toxicity in previous research. The current research shows that TLR3 activation leads to death of specific cells in the retina and that people with the normal TLR3 gene are 2 to 3 times more likely to development the form of dry macular degeneration known as geographic atrophy.

Ambati has said “We finally have a potential therapy for preventing vision loss from dry macular degeneration.”

Director of ocular genetics at the National Eye Institute has indicated that this discovery may have major preventive and therapeutic implications for those people suffering from dry macular degeneration. “Given its high prevalence in the United States and the world, finding effective prevention and treatment strategies for age-related macular degeneration (AMD) is of critical importance,” Chin Said. “This finding represents a major advancement in our understanding of dry macular degeneration, for which effective treatment is not yet available.”