VSRSS talk featuring Dr. Elise Héon

Biography

Dr. Héon has been staff ophthalmologist at SickKids since 1996. Her career focusses on
inherited eye disorders, now mostly on inherited retinal diseases. She directs the Ocular Genetics
program providing comprehensive assessment, genetic testing and counseling of patients affected with inherited retinal disorders. She became Chief of Ophthalmology in 2003 when her laboratory was moved from the Toronto Western to SickKids Research Institute. She has trained numerous students of various academic levels from around the world. Dr. Héon’s current research focusses on the genetic characterization of inherited retinal disorders when clinical genetic testing did not identify the disease-causing variant(s). Using Genome sequencing and sophisticated analytical protocol, her group has been successful in deciphering nearly 80% of cases. Dr. Héon has a specific interest in disease cause by genes affecting cilia, ciliopathy, namely Bardet Biedl syndrome. Using cells from patients and high throughput drug screening through the SPARC facility, her groups is trying to identify small molecules that may improve patient outcome. Lastly, Dr. Héon is exploring patient reported outcome measures (PROM) for IRD and especially in children, which would best represent the impact of the visual impairment on the patient daily living.

Abstract

Retinal degenerations are genetically heterogeneous and an important cause of blindness. The genetic characterization is a key first step in understanding the disease -causing mechanisms and work towards improving outcome. Voretigene Neparvovec was approved by the FDA in 2017 as a gene replacement therapy for biallelicRPE65-retinal degeneration. Health Canada gave approval in 2020and Ontario approved reimbursement in 2023. Since then at the Hospital for Sick Children, we have treated 23 patients between the ages of 9 and 43 years. The range of visual acuity was between 20/50 and Hand motion while the visual fields range between almost normal and a small island to the V4e stimulus. All patients had improved retinal sensitivity as per Full field stimulus threshold testing. Complications included retinal hemorrhage, increased intra ocular pressure, macular hole, decrease in central vision and visual field and retinal detachment. Risks and benefits will be discussed.