Stopped: The study was terminated due to low participant enrolment and to accommodate PYC's future interventional study.
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
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Best-corrected High Contrast Visual Acuity (HCVA)
Timeframe: Baseline through Year 2
Low Contrast Visual Acuity (LCVA)
Timeframe: Screening through Year 2
Contrast Sensitivity
Timeframe: Baseline through Year 2
Color Vision
Timeframe: Baseline through Year 2
Retinal Thickness
Timeframe: Baseline through Year 2
Ellipsoid Zone (EZ) Volume
Timeframe: Baseline through Year 2
Ellipsoid Zone (EZ) Area
Timeframe: Baseline through Year 2
Visual Field Sensitivity
Timeframe: Baseline through Year 2
Multifocal Visual Evoked Potential (mfVEP)
Timeframe: Baseline through Year 2
Pregnancy Test
Timeframe: Baseline
DARC (Detection of Apoptosing Retinal Cells)
Timeframe: Baseline through Year 2
Flavoprotein Fluorescence (FPF)
Timeframe: Baseline through Year 2
Retinal Abnormalities
Timeframe: Baseline through Year 2
Adverse Events (AEs)
Timeframe: Screening through Year 2
Genomic Analysis for Study Eligibility
Timeframe: Screening
Vital signs
Timeframe: Baseline through Year 2