OCULAR GENETICS CENTER
Comprehensive and accessible care for individuals with inherited conditions.
Genetics Counseling Service
Rebecca Procopio MS, CGC, provides genetic counseling as an independent service at Wills Eye.
ABOUT THE GENETIC COUNSELING SERVICE
• Genetic counseling visits are for patients with known or suspected ocular genetic conditions.
• Genetic counseling consists of gathering medical and family history, determining genetic testing options, informed consent, and result interpretation and review.
• Ms. Procopio may also work directly with your doctor to choose the best genetic test for you.
Clinical trials are available for many individuals with ocular genetic conditions. Genetic counseling sessions involve providing resources, and can help facilitate decision-making regarding trials.
Rebecca Procopio, MS, CGC
Inherited Retinal Disease Clinic
Inherited retinal diseases—or IRDs—are a group of diseases that can cause severe vision loss or even blindness. Each IRD is caused by at least one gene that is not working as it should. IRDs can affect individuals of all ages, can progress at different rates, and are rare.
Jose S. Pulido, MD, MS, MPH, MBA, is a leading expert on inherited retinal disease. In association with Mid Atlantic Retina, Dr. Pulido sees patients with the following indications:
• Retinitis Pigmentosa
• Stargardt Disease
• Pattern Dystrophy
• Macular Dystrophy
• Retinal Dystrophy
• Pigmentary Dystrophy
Genetic counseling visits are scheduled in conjunction with IRD clinic appointments for patients who need counseling and testing
Jose S. Pulido, MD, MS, MPH, MBA
Medical Genetics Clinic
Led by Dr. Adele Schneider, medical geneticist, Wills Eye has a medical genetics clinic once a month, typically on the first Friday of the month. This service includes gathering a comprehensive medical and family history, physical examination, recommendation and coordination of genetic testing, and pre and post-test genetic counseling, completed by Rebecca Procopio MS, licensed and certified genetic counselor.
The following indications are appropriate for this service. Of note, indications do not have to be ocular or ophthalmologic. We serve both adult and pediatric patients:
• Developmental delay
• Autism spectrum disorder
• Congenital malformations or birth defects (one major, or two or minor anomalies)
• Connective tissue disorders
• Significant vision or hearing loss
• Unusual patterns of growth
• Unusual skin findings, including café au lait macules
• Known genetic disease, or family history of known genetic disease
Adele Schneider, MD, FACMG