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ADNIV Uveitis Gene Discovered!

May 14 2013

Posted In:

20/20 Blog

Our laboratory has identified the CAPN5 gene as the cause of ADNIV, an inherited autoimmune disease of the eye. This landmark discovery represents the first identified gene that causes uveitis - a blinding inflammation within the eyes. The condition is also characterized by abnormal neovascularization and fibrosis in the eye.

ADNIV was recently highlighted in the CBS morning news.

From a recent article:

Over the last couple of decades, specialists in the ophthalmology department have seen more than 100 patients with the disease. We’ve painstakingly learned more about the disease, how it progresses, and have developed treatments to delay the onset of blindness.

In a paper published in the journal PLoS Genetics, our team reported that a mutation in a gene known as CAPN5 appeared to be a cause of the disease. More specifically, we believe the gene encodes a protein that somehow activates other proteins to trigger inflammation in the eye.

“This case was unusual because (the sufferers) came in as a family,” Mahajan says, “and that almost never happens. Because it was in a family, we knew the disease could be inherited, and we could find a gene (that causes it).”

Moreover, the CAPN5 gene may be associated with more common eye disorders, from uveitis (damage to eye’s middle layer that can lead to blindness) to retinitis pigmentosa (retinal damage leading to loss of night and peripheral sight). More research is needed to better understand this possible link.

“This discovery gives us a key molecular target to understand and treat inflammatory eye diseases,” Mahajan notes. “It should also end up teaching us a lot about autoimmunity. I expect it will help us go from very general immuno-suppressive medications that are often not sufficiently effective, to very specific therapies.”