RPB Researcher Pursues Clues to Rare Eye Disease that Could Help Millions

RPB Career Development Awardee Vinit Mahajan, MD, PhD is studying members of an Iowa family who are facing varying stages of blindness related to a rare genetic disorder known as autosomal dominant neovascular inflammatory vitreoretinopathy, or ADNIV, an inherited form of autoimmune uveitis.  He and members of the family recently were featured in a CBS news report.

According to a study published in PLOS online, ADNIV sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. "Because of its similarity to other common eye diseases, ADNIV patients are often misdiagnosed, unless the familial nature of their disease is recognized," the authors write.

In the study, Mahajan and colleagues report discovering that mutations in the CAPN5 gene (which was found in photoreceptor cells, shown here in green) cause ADNIV.

"In families that carry this condition, 50% of patients inherit the gene and become blind, developing blinding features similar to several of the more prevalent eye diseases," says Mahajan.  "We feel that this discovery is a Rosetta Stone that will give insight into all of these conditions, not just autoimmune disease of the eye."

Dr. Mahajan's 2011 RPB Career Development Award of $250,000 across four years is allowing him to pursue a variety of investigations, including the recent study showing that a new drug, Eylea, can ease vision problems for wet AMD patients who cannot benefit from Avastin and Lucentis injections.

"RPB has provided me with critical funding that allows me to pursue high-risk, high-reward experiments," says Mahajan.  "Instead of baby steps, we have been able to make scientific leaps towards curing blindness. RPB is awesome. In addition to my CDA, unrestricted funds from my chairman at the Jules Stein Eye Institute and, now, at Iowa have supported me throughout my career when the NIH would not."

June 26, 2013