For over 18 years, Jayne S. Weiss, M.D., professor of Ophthalmology and Pathology at WSU’s School of Medicine has been studying a rare inherited corneal disease, Schnyder’s crystalline corneal dystrophy (SCCD). With her collaborators, she has discovered the abnormal gene which causes this visually disabling disease. The lipid processing gene that causes SCCD, UBIAD1, should give a window into understanding other diseases involving abnormal lipid accumulation such as hypercholesterolemia or atherosclerosis.

SCCD causes visual loss by resulting in progressive opacification of the front layer of the eye, the cornea. This progressive clouding of the cornea which causes gradual visual loss, results from an abnormal deposition of cholesterol and fatty acids (phospholipids) in the cornea. In the 1990’s, Dr. Weiss’ work with Dr. Howard Kruth’s research group at the National Institutes of Health, revealed that the pathology of the corneal deposits in SCCD was similar to atherosclerosis, a condition caused by cholesterol in the bloodstream.

Subsequently studying over 35 families with SCCD around the world, she found that the disease resulted in significant visual disability with 50% of affected individuals above the age of 50 having undergone corneal transplant surgery because of visual loss. In addition, two-thirds of patients with SCCD also have hypercholesterolemia. When Dr. Weiss first began studying this disease 18 years ago, it was her hope that finding the gene for SCCD might lead to further understanding about systemic cholesterol metabolism and possibly atherosclerosis.

Dr. Weiss’ research is the largest and longest-running patient study of SCCD, making her the world’s leading expert on the disease. What began as a coincidence in 1986 with three patients diagnosed with SCCD - all three with the same surnme or maiden name - has led to a collection of more patients with this disease than had ever been studied or reported in medical literature. With the large volume of patients in the study, and the length of the study, Dr. Weiss has been able to clearly paint a picture of what happens to patients with this disease over a long span of time.

The surname discovery led to the recognition that a large portion of patients diagnosed with the disease are of Swede/Finn descent. This allowed Dr. Weiss to zero in on recruiting patients for her study.

Dr. Weiss hopes further work will shed light on lipid metabolism in the rest of the body and ultimately translate into preventative therapy.