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Genetics study on Fuchs, Dystrophy launched by Case Western Reserve University and University Hospitals of Cleveland

Researchers at the Vision Research Coordinating Center and the Department of Epidemiology and Biostatistics at Case Western Reserve University School of Medicine (Case) and University Hospitals of Cleveland (UHC) are leading a nationwide study of the genetics of Fuchs, Endothelial Corneal Dystrophy (FECD). The disease afflicts approximately one percent of the general population, including entire families, and can cause blindness. The FECD Genetics Multi-center Study is funded by a $4.1 million grant over the next five years from the National Eye Institute of the National Institutes of Health.

FECD occurs when the endothelium, the back cell layer of the cornea, begins to deteriorate. As a result, the endothelium,s function—to keep the cornea clear and prevent it from swelling—is hampered to the point that patients eventually develop a sensation of having a foreign body in the eye, pain, and eventual decrease in vision. Doctors often notice early signs on eye examination of FECD among 30- and 40-year-olds, including the presence of microscopic bumps, called guttae, in the back of the cornea, but the disease rarely affects vision until people reach their 50s or 60s and the cornea has swollen and caused blurring of vision and pain.

The study with 23 sites around the country, headquartered at UHC and Case, is designed to collect data from FECD patients and their family members so that researchers can further explore the genetic causes of the disease. At least 500 families will be examined and approximately 2,000 people screened to determine the degree to which FECD is present.

"Fuchs, Dystrophy is the most common inherited corneal disease that requires a corneal transplant in the United States," said Jonathan H. Lass, M.D., co-principal investigator of the study and chair, Department of Ophthalmology at UHC and Case. "This condition leads to marked blurring of vision and can be debilitating and painful, which helps to explains why about 7,500 transplants a year are performed on patients with FECD. It always affects both eyes, but to different degrees of severity." Currently, a cornea transplant is the only cure for FECD.

"We have designed a multi-center study to recruit families with FECD because our knowledge of the genetic basis of the disease remains somewhat limited," said Sudha Iyengar, Ph.D., principal investigator and associate professor of epidemiology, biostatistics, genetics and ophthalmology at Case. "A complex relationship between genes—not a single gene—is responsible for causing FECD. With this new research initiative, we hope to discover more about the genetic likelihood that would cause an individual to develop the disease."

The identification of the genes that may contribute to the development of FECD, would be very useful for counseling of the family, observation for worsening of the disease, implementation of corneal transplant surgery, if severe, but ultimately gene modulation and/or therapy to delay or prevent its progression.


About Case Western Reserve University

Case is among the nation's leading research institutions. Founded in 1826 and shaped by the unique merger of the Case Institute of Technology and Western Reserve University, Case is distinguished by its strengths in education, research, service, and experiential learning. Located in Cleveland, Case offers nationally recognized programs in the Arts and Sciences, Dental Medicine, Engineering, Law, Management, Medicine, Nursing, and Social Work.