University College, London
The goals of this observational study are to develop and train artificial intelligence (AI) algorithms using multimodal imaging to identify patients with inherited retinal degeneration (IRD) caused by Retinal Pigment Epithelium Specific Protein 65 (RPE65) and Retinitis Pigmentosa GTPase Regulator (RPGR) mutations. Another algorithm will be developed to measure and monitor retinal changes over time, with the aim of helping identify patients who may be suitable for available or emerging treatments and supporting assessment of disease progression and treatment response. The main questions this study aims to answer are: 1. Can AI algorithms accurately distinguish patients with RPE65- or RPGR-associated IRDs from individuals without these conditions using ultra-widefield retinal imaging? 2. Can AI algorithms accurately detect and quantify retinal abnormalities associated with these conditions and monitor their progression over time on ultra-widefield retinal imaging? Researchers will compare retinal images from patients with RPE65- or RPGR-associated IRDs with images from healthy participants, including people with and without myopia, to assess how accurately the algorithms can distinguish between these groups and monitor disease-related changes.
Our study is centred on tackling inherited retinal degeneration (IRD), which is a significant cause of vision loss in children and adolescents around the world. Despite their substantial burden of disease, treatment options remain limited. To date, voretigene neparvovec (VN) remains the only approved gene therapy for IRDs, specifically RPE65-associated mutations, although novel therapies targeting RPGR-associated IRDs are emerging. Modern non-invasive retinal imaging techniques, in particular ultra widefield (UWF) imaging for both color and fundus autofluorescence (FAF) acquired using Optos, Z…
Inclusion Criteria: Participants must meet the criteria for one of the following study cohorts: * Retinal Pigment Epithelium Specific Protein 65 (RPE65)-associated retinal degeneration: genetically confirmed biallelic sequence variants in RPE65. * Participants with a clinical diagnosis of Leber congenital amaurosis or early onset severe retinal degeneration whose phenotype is suggestive of biallelic RPE65-associated retinal degeneration will also be eligible for inclusion. * Retinitis Pigmentosa GTPase Regulator (RPGR)-associated retinal degeneration: genetically confirmed hemizygous RPGR se…