Korneale Konfokalmikroskopie am Auge zur Beurteilung von Nervenfasern der Kornea bei Patient*innen mit Hereditär Motorisch-sensiblen Neuropathien

Corneal confocal microscopy used in the human eye to evaluate corneal nerve fibres in patients with hereditary motor and sensory neuropathies

by Leon Feischen
Doctoral thesis
Date of Examination:2025-06-17
Date of issue:2025-06-11
Advisor:Prof. Dr. Jens Schmidt
Referee:Prof. Dr. Jens Schmidt
Referee:Prof. Dr. Michael Werner Sereda
Persistent Address: http://dx.doi.org/10.53846/goediss-11303

 

 

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Abstract

English

Hereditary motor and sensory neuropathies (HMSN) represents a group of genetically heterogenous inherited neuropathies. No therapy is available and biomarkers are difficult to validate due to slow disease progression. Corneal confocal microscopy (CCM) is a non-invasive method for the in-vivo visualisation of corneal nerve fibres. Evidence for the use in HMSN is scarce, but promising. This study assesses the use of CCM in the evaluation of small fibre damage in patients with HMSN. 21 patients with HMSN were assessed with standard neuropathy evaluation and CCM. CCM measures were corneal nerve fibre density, corneal nerve fibre length, corneal nerve branch density, turtuosity coefficient, and dendritic cell infiltration. Standard evaluation showed damage in large and small fibres (A-alpha, -beta, -delta and C). The results of CCM measures were then compared to those of an age- and gender-matched control group. CCM measures were not significantly different from those of the control group. 18 out of the 21 patients were assessed in follow-up after 12 months with standard evaluation and CCM. There was no change to the baseline values in those 18 patients. In conclusion more CCM studies in patients with CMT need to be carried out to evaluate the potential benefit of the method.
Keywords: corneal confocal microscopy; CCM; hereditary motor and sensory neuropathies; HMSN; inherited peripheral neuropathies; IPN; Charcot-Marie-Tooth; CMT; corneal nerve fibres; dendritic cells