Clinical Research Directory

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 sequence variants in male participants, or female participants with single heterozygous RPGR sequence variants or homozygous or compound heterozygous RPGR sequence variants will be included in this cohort. * Participants with a clinical diagnosis of X-linked Retinitis Pigmentosa and X-linked cone-rod degeneration whose phenotype is suggestive of RPGR-associated retinal degeneration will also be eligible for inclusion. * Control cohorts: participants without inherited retinal degeneration, including both myopic (defined as mean spherical equivalent refractive error of ≤ -1.00 dioptres (D)) and non-myopic individuals. All will be from diverse ethnic backgrounds, for development of a normative retinal imaging dataset. * Availability of retinal imaging data of sufficient quality for the planned analyses. Exclusion Criteria * Participants who do not meet the clinical, genetic, or control-group criteria for any of the predefined study cohorts. * Participants for whom the retinal imaging data required for the planned analyses are unavailable. * Participants whose retinal images are of insufficient quality for reliable image analysis.