Journal article
THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease
MP Simunovic, AT Moore, J Grigg, P Sergouniotis, OA Mahroo, A Vincent, M Singh, MD Fischer, T Edwards, H Mack, M Hogden, FK Chen, A Hewitt, L Ayton, B Leroy, R Jamieson, MC Gillies, D Barthelmes
Retina | Published : 2025
Open access
Abstract
Purpose: To design and build a new disease registry to track the natural history and outcomes of approved gene therapy in patients with inherited retinal diseases. Methods: A core committee of six members was convened to oversee the construction of the Fight Inherited Retinal Blindness! module. A further 11 experts formed a steering committee, which discussed disease classification and variables to form minimum datasets using a consensus approach. Results: The web-based Fight Inherited Retinal Blindness! registry records baseline demographic, clinical, and genetic data together with follow-up data. The Human Phenotype Ontology and Monarch Disease Ontology nomenclature were incorporated withi..
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