Palo Alto, CA – The Molecular Surgery Program in Stanford’s Ophthalmology Department held the first Bay Area Genetic Retinal Disease Case Conference at the Byers Eye Institute. Physicians from Stanford, UC San Francisco, UC San Diego, and the NIH shared patient cases in an effort to improve care for patients with genetic retinal diseases.
The keynote address was given by Jacque Duncan M.D., professor of ophthalmology at UCSF. Her lecture, Natural history studies accelerate the progress of clinical trials for inherited retinal degenerations, highlighted the program she established and directs through the Foundation Fighting Blindness. Dr. Duncan explained how natural history studies have standardized clinical phenotyping for rare genetic conditions and have identified biomarkers that will reduce the duration of clinical trials.
Physicians from Stanford, UCSF, and UCSD presented cases that included: A Child with Swollen Discs, Gradual Systemic Decline in a Young Woman, Early findings from the long term natural history study of a monogenic macular degeneration: Late onset retinal degeneration, Severe maculopathy in a pediatrician, Pitfalls of early molecular diagnosis, Of Eyes and Kidney, and Inner Retinal Structures in a Family with Autosomal Dominant Optic Atrophy.
Moore led a poignant discussion on the challenge of genetic testing in asymptomatic minors, and Stanford Professor Emeritus Michael Marmor M.D. shared his insights in caring for children with inherited retinal disease.
Dr. Loh-Shan Leung, director of the electroretinography service at Stanford, presented a case where a characteristic electroretinography pattern identified the causative gene before confirmation by genetic testing.
Molecular Surgery Program Director Dr. Mahajan was optimistic about the future of rare genetic eye diseases and clinical trials.
Mahajan said, “Many cases highlighted the importance of genetic testing in giving patients a specific diagnosis.” He added, “A molecular diagnosis allows us to appropriately place patients into the right clinical studies. This opens up the chance for rare eye diseases to get the same attention and funding as more common eye diseases. And in many cases, understanding a rare disease can shed light on the treatment of all kinds of retinal diseases.”
A few cases with indeterminate genetic testing due to variants of unknown significance were also reviewed. In one instance, Stanford and UCSF doctors were able to develop a consensus on converting a variant of unknown significance to a causative mutation. The physicians will be collaborating on publishing their cases involving this rare gene.
Mahajan believes that because of advanced molecular biology technologies, like protein structural biology and proteomics, new therapies are on the horizon. He presented how his research team is mapping gene mutations on three-dimensional protein structures to gain insight into disease mechanisms and solve variants of unknown significance.
The Bay Area Genetic Retinal Disease Case Conference was supported by an unrestricted educational grant from the Ocular Imaging Research & Reading Center, Sunnyvale CA.