Serum Neurofilament Light Chain in Patients with Dominant Optic Atrophy - A Case-Control Study

In numerous neurodegenerative disorders, neurofilaments, especially their subunits such as the Neurofilament light chain (NfL), are recognized as significant biomarkers of axonal injury when increased in blood or cerebrospinal fluid. Dominant optic atrophy (DOA) is characterized by a degeneration of retinal ganglion cells leading to axonal injury. Aim of this study was the evaluation of serum NfL (sNfL) levels in patients with DOA. sNfL concentration was quantified by a Single Molecule Array (Simoa) SR-X analyzer. Primary aim was the comparison of sNfL between patients with OPA1-DOA confirmed by genetic testing and controls. We further investigated associations between sNfL and age, visual acuity, peripapillary retinal nerve fiber layer thickness (pRNFLT) and disease duration. 22 DOA patients and 22 controls were included in this study. sNfL concentration was higher in DOA patients but did not differ significantly between the DOA group (Median (IQR) = 7.39 (5.25, 11.26) and controls (Median (IQR) = 5.86 (4.50, 9.88); p = .405). We found significant correlations between sNfL and age in both groups (DOA group: rho = 0.77, p < .001; control group: rho = 0.79, p < .001). Correlations between sNfL and visual acuity, pRNFLT and disease duration were not significant. Although elevated sNfL values were found in patients with DOA, we did not observe a significant difference between DOA patients and healthy controls.