A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.

Amanda J ScopellitiRobyn V JamiesonElizabeth H BarnesBenjamin NashSulekha RajagopalanElisa L CornishJohn R B Grigg

Published in: Documenta ophthalmologica. Advances in ophthalmology (2023)

We have described the natural long-term decline in vision and cone function associated with mutations in GUCY2D and identified a set of functional and structural biomarkers that may be useful as outcome parameters for future therapeutic clinical trials.

Keyphrases

clinical trial
early onset
current status
randomized controlled trial
phase ii