Dr. Shyamanga Borooah from the University of California receives $70,000 Knights Templar Eye Foundation grant to study Danon disease

Inherited eye diseases make up nearly 50% of causes of childhood blindness in the developed world. Over 270 genes are known to cause inherited diseases of the retina, the thin layer at the back of the eye responsible for vision.

Danon Disease is a rare and potentially fatal inherited disease which affects children and can lead to blindness. The disease also results in heart and muscle problems. Although progress has been made in treating the heart disease associated with Danon disease, the main complaint of patients with this condition is vision loss. The exact cause of the vision loss is still unclear. Progress has been limited by the lack of suitable models of eye disease. The goals of the study are to initially understand the cause of the disease by studying available models and test gene therapy to replace the defective gene to investigate whether this will prevent retinopathy in the disease model. The ultimate aim is to develop new therapies which will prevent vision loss in children affected by Danon disease.