The Inherited Retinal Disorders (IRD) Service (formerly, ERG Service) has been serving patients at Mass Eye and Ear for almost 50 years. Our department specializes in the diagnosis and treatment of the full range of inherited retinal disorders, the most common of which are retinitis pigmentosa and Stargardt disease. We offer a comprehensive evaluation for patients that includes, as appropriate: measurement of visual function including visual fields, electroretinography, a variety of retinal imaging, genetic counseling and genetic testing, and evaluation for eligibility for ongoing clinical trials. The entire evaluation and consultation with the physician is typically completed in a single visit over the course of a day. Please note, clinical trials are only available for a small fraction of patients; however, it is a major focus of our department.
Historically, early clinical research in our department focused on the diagnosis and classification of various types of inherited retinal diseases, establishment of a low-amplitude electroretinography recording system, and nutritional approaches to slowing the progress of retinitis pigmentosa. Our physicians have access to records from patients who were seen in the ERG Service, going back to the 1970s, to allow for continuity of care. In the modern era, clinical research in the department has included testing the delivery of gene therapy for the treatment of inherited retinal disorders. Other studies also include natural history studies, stem cells, and neuroprotective strategies.
Our physicians are also investigators in the Ocular Genomics Institute, providing a special and perhaps unique synergy between clinical care and research within our department. Major historical scientific accomplishments of the department are detailed elsewhere but include a major role in the identification of the first gene that causes retinitis pigmentosa, and the establishment of a targeted genetic testing panel for the efficient genetic testing of patients with these disorders, which has since become a standard approach to genetic testing for patients around the world. The recent and ongoing work of our investigators is wide-ranging, from diagnostics to therapeutics, and is summarized in the research sections of this site.
Our services:
– Diagnose
We evaluate patients using the latest technology and state of the art techniques for clinical and genetic testing
– Treat
We are one of the few places where patients can receive the first FDA approved gene therapy treatment for inherited retinal disorder
– Study
We participate in a number of clinical trials investigating potential new treatments for patients with IRD
IRD Service physicians:
Jason Comander, MD PhD
Rachel Huckfeldt, MD PhD
Eric Pierce, MD PhD
Pablo Altschwager Kreft, MD
Please see the IRD Service website https://www.masseyeandear.org/specialties/ird for information on our clinical and clinical research activities here.
Animation showing the surgical procedure for retinal gene therapy