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FARAFARA Cure FA

Corneal Confocal Microscopy: Neurologic Disease Biomarker in Friedreich's Ataxia

This group evaluated corneal confocal microscopy (CCM) quantification of corneal nerve morphology as a novel, non‐invasive, in vivo quantitative imaging biomarker for the severity of neurological manifestations in FRDA. Corneal nerve fiber density, branch density and fiber length were quantified in individuals with FRDA (n=23) and healthy age‐matched controls (n=14). All individuals underwent genetic testing and a detailed neurological assessment with the SARA and FARS scales. A subset of individuals with FRDA who were ambulatory underwent quantitative gait assessment.

CCM demonstrated a significant reduction in nerve fiber density and length in FRDA compared to healthy controls. Importantly, CCM parameters correlated with genotype, SARA and FARS neurological scales, and linear regression modeling of CCM nerve parameters generated equations that predict the neurologic severity of FRDA. Together, the data suggests that CCM quantification of corneal nerve morphology is a rapid, sensitive imaging biomarker for quantifying the severity of neurologic disease in individuals with FRDA.

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Jane Larkindale

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