New high-tech imaging reveals details about a rare eye disorder

Using a new imaging technique, researchers from the National Eye Institute (NEI), part of the National Institutes of Health, has determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by a gene mutation.

Addressing these differences may be key in designing effective treatments for these and other rare diseases.

VMD is an inherited genetic disease that causes progressive vision loss through degeneration of the light-sensing retina. Genes implicated in VMD include BEST1, PRPH2, IMPG1 and IMPG2. Depending on the gene and mutation, the age of onset and severity vary widely. VMD affects about one in 5,500 Americans and there is currently no treatment for this condition.

Johnny Tam, PhD, Head of the NEI Clinical and Translational Imaging Unit, used multimodal imaging to evaluate the retinas of patients with VMD at the NIH Clinical Centre. Tam’s imaging uses adaptive optics – a technique that employs deformable mirrors to improve resolution – to view live cells in the retina, including the light-sensing photoreceptors, retinal pigment epithelial (RPE) cells and blood vessels in unprecedented detail.

“The NEI’s long-term investment in imaging technology is changing our understanding of eye diseases,” said Michael F. Chiang, M.D, Director, NEI. “This study is just one example of how improved imaging can reveal subtle details about pathology in a rare eye disease that can inform the development of therapeutics.”