Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Valentin, K; Aminfar, H; Georgi, T; Schneider, M; Lindner, E; Eder, L; Banfi, C; Holter, M; Khalil, M; Buchmann, A; Jerkovic, A; Woltsche, N; Singer, C; Wedrich, A; Werkl, P; Cavacean, F.
Serum Neurofilament Light Chain in Patients with Dominant Optic Atrophy - A Case-Control Study.
Neuroophthalmology. 2025; 49(3):261-267
Doi: 10.1080/01658107.2025.2472753
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- Führende Autor*innen der Med Uni Graz
- Lindner Ewald
- Valentin Katharina
- Co-Autor*innen der Med Uni Graz
- Aminfar Haleh
- Banfi Chiara
- Buchmann Arabella
- Cavacean Florina
- Eder Lisa
- Georgi Thomas Patrick
- Holter Magdalena
- Khalil Michael
- Schneider Mona Regina
- Singer Christoph
- Wedrich Andreas
- Werkl Peter Johannes
- Woltsche Nora
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- Abstract:
- 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.