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Inherited Retinal Disease

Flavoprotein fluorescence may be a clinically useful biomarker in IRDs

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A new study found that in patients with retinal dystrophies there is a significant increase in flavoprotein fluorescence (FPF) intensity and heterogeneity.

In the observational study, 242 images from 157 patients with genetically confirmed retinal dystrophies were analyzed.

The was a significant increase between age-matched controls and patients with confirmed rod-cone dystrophy, Stargardt disease, Bardet-Biedl syndrome (BBS), and Mitochondrial ATP synthase mutation in mean FPF intensity and between age-matched controls and patients with confirmed rod-cone dystrophy, Stargardt disease, and BBS in mean FPF heterogeneity.

FPF lesions were found to correlate with fundus autofluorescence (FAF) lesions in diseases, which according to the authors, “implies FPF may be a clinically useful biomarker in patients with IRDs.”

Reference
Russell MW, Muste JC, Seth K, et al. Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence. Ophthalmic Genet. 2022 Nov 16:1-7. doi: 10.1080/13816810.2022.2144903. Epub ahead of print. PMID: 36384402.

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