SCHNYDER'S CORNEAL DYSTROPHY

An Eye Disease Affecting Swedish Finns and Others

by Joelle Steele

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Schnyder's Crystalline Corneal Dystrophy (SCCD) is a rare, inherited eye disease which is found in populations of Swede-Finns, as well as people of other ethnicities. First identified in research literature in 1924, SCCD occurs when there are abnormal deposits of cholesterol and lipids (fats) in the cornea. The condition is difficult to diagnose in its early stages, and eventually leads to clouding of the cornea and loss of vision with age. Treatment at this time is corneal transplant surgery, if the vision is markedly reduced from the cholesterol deposits.

GENETIC BACKGROUND

Most individuals with SCCD who have been studied to date are Swede-Finns. Dr. Jayne S. Weiss was the Director of the Cornea Service at the University of Massachusetts Medical Center in 1987, when she first began encountering people with SCCD. Upon closer investigation, Dr. Weiss discovered that three "unrelated" people with SCCD had the surname Johnson in their families and were of Swede-Finn descent. She was able to identify four family pedigrees with SCCD in the central Massachusetts area, all of which were traced to families living within a 100 km radius of southwest Finland on the Bay of Bothnia.

CURRENT STUDIES

To date, Dr. Weiss has examined more than 60 people with SCCD in the Swede-Finn population, the largest number of SCCD patients ever reported in the world. Having this identifiable population has directed Dr. Weiss and her research group towards genetic research. In addition to Dr. Helena Kuivaniemi and Dr. Gerard Tromp at Wayne State University, Dr. Weiss' team includes researchers at Children's Hospital in Philadelphia, the National Institutes of Health in Maryland, Massachusetts Institute of Technology in Boston, and the University of Sweden in Helsinki. In 2001, Weiss, Kuivaniemi, and Tromp received a $750,000 grant from the National Institute of Health to isolate the gene responsible for SCCD.

FUTURE STUDIES

Once the gene is isolated, Dr. Weiss plans future studies to study its function, which will hopefully lead to a medical treatment that may be able to save patients' vision by preventing the accumulation of the cholesterol and lipids in the cornea. In addition, there are broad implications for sufferers of atherosclerosis and hypercholesterolaemia, diseases becoming more common in our overweight and fatty foods-consuming society. Microscopic changes found in the corneas of patients with SCCD resemble those seen with atherosclerosis. Many patients in SCCD families have elevated levels of blood cholesterol, and it could be that a gene located near the SCCD gene is the cause. So genetic research done on SCCD could be a link to greater knowledge of genes' roles in relation to cholesterol in the body.

RESEARCH NEEDS

More patients are needed for SCCD research. If you have SCCD or if you think you may have SCCD in your family tree, you may be eligible to take part in Dr. Weiss' study. According to Dr. Weiss, "We are now within 10 genes of the abnormal gene, so getting more patients and volunteers is even more important for this last push." So, if you wish to help with this valuable research study, no matter where you live, you may contact Dr. Weiss as follows:

Jayne S. Weiss, MD
Professor of Ophthalmology and Pathology
Kresge Eye Institute
4717 St. Antoine Blvd
Detroit, Michigan 48201
(313) 577-2964
E-mail: jweiss@med.wayne.edu

This article last updated: 01/17/2008.