On April 27, The Symposium on Gyrate Atrophy was held by the Mexican Foundation for Gyrate Atrophy. The symposium was organized by Wilmer postdoctoral research fellows Maria Graciela Chairez Miranda, M.D.; Bani Antonio-Aguirre, M.D.; Zainab Rustam, M.B.B.S.; Muhammad Jehanzeb Khan, M.B.B.S.; and retina research coordinators Imad Shaikh and Jose Amezcua Moreno.

Gyrate Atrophy is a rare metabolic disorder in which a mutation in the OAT gene leads to accumulation of ornithine, which has cytotoxic effects on the retina. The incidence of this disease is 1/100,000 in the world and 1/50,000 in Finland. There is no cure, and it is treated by amino acid, pyridoxine supplementation and a diet low in protein, which can be very challenging due to limited food options. 

The Mexican Foundation for Gyrate Atrophy was founded by Dr. Chairez Miranda in 2018, who herself has gyrate atrophy and currently works in the clinical trial unit of Peter Campochiaro, M.D., the George S. and Dolores Doré Eccles Professor of Ophthalmology and Neuroscience. Through the foundation, she has advocated and raised awareness for gyrate atrophy in Latin America and donates amino acid supplementation to those who can't otherwise afford it.

Invitees to the April 27 symposium included David Valle, M.D., the Henry J. Knott Professor of Genetic Medicine at the Johns Hopkins School of Medicine; Mandeep Singh, M.D., Ph.D., the Andreas C. Dracopoulos Professor of Ophthalmology; and Jefferson Doyle, M.D., Ph.D., the Andreas C. Dracopoulos & Daniel Finkelstein, M.D. Rising Professor of Ophthalmology.

Dr. Valle has dedicated his life to researching gyrate atrophy and pioneered the diet recommendations. He will also co-lead a natural history of gyrate atrophy study (GYROS) along with Dr. Singh. Dr. Doyle is currently working on gyrate atrophy mouse models to better understand the pathophysiology of the disease.

At the event, Dr. Valle talked about the history of gyrate atrophy, what we’ve learned and what the future holds. Dr. Singh spoke in detail about his natural history study, GYROS, and Dr. Doyle spoke about his gyrate atrophy mouse models. The event was held at the Instituto de Oftalmologia FAP Conde de Valenciana in Mexico City, Mexico. It was attended by patients, families, medical students and hospital leadership. Virtually, it was attended by 50+ people including Fernando Arevalo, M.D., Ph.D., the Edmund F. and Virginia B. Ball Professor of Ophthalmology, Dr. Doyle and medical students from Mexico and Pakistan.

During the event, open discussions were held with patients and their families, who shared their struggles and challenges of living with a rare metabolic retinal disease. Lessons were learned by the Wilmer Eye Institute team, and we come back with a new perspective and motivation to help those with inherited retinal diseases.
– Zainab Rustam