Congenital Eye Disorder Program
The Congenital Eye Disorder Program is designed with a “team effort” focus to provide patients and their families the best care in one place to treat the whole person, instead of just the disorder or syndrome. This program consists of ophthalmic clinical care, related medical care from our other nationally ranked departments, education on the disorder(s) or syndrome(s) the patient may have, access to further support services, a gene/specimen bank for future research and several research study opportunities for patients.
The latest in treatment care and research advancements will give the best future outlook for those with genetic eye disorders. There are various opportunities for the patients themselves to help lead these advancements should they choose. Participation opportunities to help advance knowledge are through the Congenital Eye Disorder Program, ongoing research studies in various UVA departments, data collection projects, and clinical trials. For questions or to make an appointment, please call 434-924-5485.
About the Program
Genetic testing may help you understand the underlying causes of your or your child’s disorder, and help your physicians better treat the disorder or the symptoms it induces. Genetic testing does not include personal genomics. Results are best interpreted by a clinical geneticist or trained professional.
When a patient with a congenital eye disorder or the parent of a child with a disorder contacts the Congenital Eye Disorder Program, they will be personally assisted through the process coordinating needs such as: appointments, financial assistance, obtaining medical records for the exam, discounted lodging, travel and local information to make their trip to UVA as stress free as possible. Once here for the appointment, they will meet with the Congenital Eye Disorder Team consultant who will provide information, answer questions, and share other opportunities related to research, clinical trials, data collection or other medical departments. They will then be accompanied to the clinic appointment where they will be examined and their Congenital Eye Disorder Consultant will assist with any suggested follow up care or services by the examining ophthalmologist.
Robert M Grainger, PhD
Scientific Director
Dr. Grainger is the W. L. Lyons Brown Professor of Biology and Professor of Ophthalmology. His research interests concern how the eye is formed during embryonic development. He uses frog embryos as a model for much of his research because of the advantages of studying externally developing embryos for understanding early development in humans. In addition, he oversees research projects on congenital eye diseases, including patients who have aniridia, which affects the gene PAX6. PAX6 is a gene that is essential for normal eye development.
Albinism
Aniridia Syndrome
Anophthalmia
- ican – the International Children’s Anophthalmia Network
- MAPS (Microphthalmia/Anophthalmia Parent Support)
Axenfeld-Rieger Syndrome
Bardet-Biedl Syndrome
Best Disease (vitelliform macular degeneration)
CHARGE Syndrome
Choroideremia
Coloboma
Cri du chat Syndrome
Leber’s Congenital Amaurosis
Marfan Syndrome
Microphthalmia / Anophthalmia
Nance-Horan Syndrome
Norrie Disease
Nystagmus
Prader-Willi Syndrome
Retinoblastoma
Stargardt Disease
Strabismus
Sturge-Weber Syndrome
Turner Syndrome
Usher Syndrome
Waardenburg Syndrome