Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence
Matthew W. Russell, Justin C. Muste, Kanika Seth, Madhukar Kumar, Collin Rich, Rishi P. Singh, Elias I. Traboulsi
Abstract
BACKGROUND: Whether by indirect oxidative stress or direct genetic defect, various genetic retinal dystrophies involve mitochondrial stress. Mitochondrial flavoprotein fluorescence (FPF), reported as either average signal intensity or variability (heterogeneity), may serve as a direct, quantifiable marker of oxidative stress. MATERIALS AND METHODS: third generation device during routine outpatient visit. RESULTS: ≤ 0.007). Mean FPF heterogeneity was significantly increased between age matched controls and patients with confirmed rod-cone dystrophy, Stargardt disease, and BBS (P ≤ 0.011). FPF lesions were noted to correlate with Fundus Autofluorescence (FAF) lesions in diseases examined. CONCLUSIONS: FPF intensity and heterogeneity significantly increased in patients with retinal dystrophies. The correlation of FPF lesions with FAF lesions implies FPF may be a clinically useful biomarker in patients with IRDs.