The Retinal and Macular Degeneration and Clinical Retinal Electrophysiology Service is a regional clinical consultation referral service for physicians of patients and their families seeking highly specialized retinal diagnostic evaluation. Patients with suspected hereditary retinal and macular degenerations, problems with visual dark adaptation, and patients with dry macular degeneration are welcome. Also, patients having clinical problems where retinal electrophysiology can play a role in differential diagnosis are welcome. The service provides specialized psychophysical and family history evaluation, detailed clinical exam, and a series of specialized diagnostic tests which currently include electroretinography (ERG), multifocal electroretinography (mfERG), electrooculography (EOG), color vision testing, final dark-adapted threshold testing, and dark adaptation recovery kinetics. Kinetic and static visual field testing, high resolution retinal imaging (OCT), and retinal fluorescein angiography are adjunctive tests that are also used in diagnostic evaluation. Our goal is to achieve an evaluation of retinal function and tissue anatomy to correlate with clinical anatomic indicators in support of the diagnostic process.

After clinical diagnosis my service also provides links to genetic testing and counseling for patients and their families who seek to achieve a specific genetic diagnosis. Currently, there are approximately 200 human disease genes that underlie diverse hereditary retinal, macular, and optic nerve degenerations. Genetic diagnosis can be helpful in establishing risk of disease for family members, prognosis for disease severity and progression for individuals known to harbor specific disease genes, and is a critical element to ongoing or future clinical gene therapy trials for hereditary syndromes caused by specific disease genes.

Jack Sullivan, MD, PhD