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Sundstrom establishes Penn State Inherited Retinal Degeneration Clinic

Dr. Jeffrey Sundstrom, an ophthalmologist at the Penn State Eye Center, has developed the Penn State Health Inherited Retinal Degeneration (IRD) Clinic to improve the care of and treatment opportunities for patients afflicted with these rare genetic diseases characterized by progressive and profound vision loss.

Sundstrom and his research team, including Ellen Stoute, clinical research coordinator, and Susan Sell, genetic counselor, have screened more than 130 patients since it opened in July of 2016. A total of 40 patients with IRD have been identified and 20 participants have had genetic testing performed. This work has led to the identification of the disease-causing mutations in two patients, one of whom is eligible for an ongoing gene therapy trial to restore his vision. Services provided through the clinic will improve and expand the care available to IRD patients at Penn State Health and contribute to research and development in the IRD community. To be considered for treatment, each patient must be carefully characterized clinically and the underlying genetic cause must be identified.

The clinic is funded by Penn State Pathways to Partnership, an institutional funding program developed to nurture interdisciplinary team research, and supported by a grant from the Pennsylvania Department of Health.

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