Clinical Characterisation of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy. Participants will undergo standardized ophthalmic and functional assessments, including visual acuity testing, visual field testing, color vision and contrast sensitivity testing, optical coherence tomography, retinal flavoprotein fluorescence imaging, and video-oculography-based ocular motor and pupillary measurements. The study aims to characterize disease severity and progression over time and to identify structural, metabolic, and functional biomarkers that may serve as clinical endpoints for future therapeutic studies.
• Age 6 years or older
• Clinical diagnosis or clinical features consistent with optic atrophy
• Molecular genetic confirmation of a pathogenic or likely pathogenic variant in the OPA1 gene
• Ability of the participant, or the participant's parent or legal guardian, to understand the nature of the study and provide written informed consent
⁃ (Participants are eligible for inclusion if all of the criteria mentioned above are met)