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

Area of Science:

• Neuroscience
• Ophthalmology
• Biomarker Research

Background:

• Neurofilaments, particularly Neurofilament light chain (NfL), are established biomarkers for axonal injury in neurodegenerative diseases.
• Dominant Optic Atrophy (DOA) involves retinal ganglion cell degeneration and subsequent axonal injury.

Purpose of the Study:

• To evaluate serum NfL (sNfL) levels in patients with Dominant Optic Atrophy (DOA).
• To compare sNfL levels between genetically confirmed OPA1-DOA patients and healthy controls.
• To investigate correlations between sNfL and clinical parameters in DOA.

Main Methods:

• Quantification of serum NfL (sNfL) using a Single Molecule Array (Simoa) SR-X analyzer.
• Inclusion of 22 DOA patients and 22 healthy controls for comparison.
• Statistical analysis to assess differences and correlations.

Main Results:

• sNfL concentrations were numerically higher in DOA patients compared to controls, but this difference was not statistically significant (p=0.405).
• Significant positive correlations were observed between sNfL and age in both DOA patients (rho=0.77, p<0.001) and controls (rho=0.79, p<0.001).
• No significant correlations were found between sNfL and visual acuity, peripapillary retinal nerve fiber layer thickness (pRNFLT), or disease duration.

Conclusions:

• Elevated serum NfL levels were observed in DOA patients, but a significant difference from healthy controls was not detected.
• Age is a significant confounding factor in sNfL measurements, showing a strong correlation in both patient and control groups.
• sNfL may not serve as a sensitive standalone biomarker for axonal injury in DOA, despite its role in other neurodegenerative conditions.