Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
Reviewed by Ivan Yip

The authors present their telephone survey data of 10 patients with a mean age of 24.4 years regarding their opinion on gene therapy for their Leber’s congenital amaurosis. Patients were recruited at the Hospital for Sick Children, Toronto. Of the 10 patients, two were already enrolled in gene therapy trials, five would enrol, two were ambivalent and one would not enrol. Participants were asked questions on themes of meaningful vision, general expectations, adaptation to sight, identity and self-perception, motivations and barriers, upbringing / environment, self-esteem and self-acceptance. The authors identified these as themes to explore when counselling patients about inherited eye disorders and gene therapies. This article also draws from other articles which explore patients’ perspectives regarding retinitis pigmentosa and hearing loss which share some similarities. Patients were more likely to have a positive opinion of new therapies if their primary eye care provider recommended it rather than just trusting trial data, thus highlighting the integral role their doctor has. Limitations of the study is that gene therapies are offered to younger children which were not included nor their caregivers.

Gene therapy: perspectives from young adults with Leber’s congenital amaurosis.
Napier MP, Selvan K, Hayeems R, et al.
EYE
2022;36:2088-93.