Evidence of small‐fiber neuropathy in neurofibromatosis type 1

In vivo corneal confocal microscopy (IVCM) allows the immediate analysis of the corneal nerve quantity and morphology. This method became, an indispensable tool for the tropism examination, as it evaluates the small fiber plexus in the cornea. The IVCM provides us with direct information on the health of the sub-basal nerve plexus and indirectly on the peripheral nerve status. It is an important tool used to investigate peripheral polyneuropathies. Small-fiber neuropathy (SFN) is a group of neurological disorders characterized by neuropathic pain symptoms and autonomic complaints due to the selective involvement of thinly myelinated Aδ-fibers and unmyelinated C-fibers. Accurate diagnosis of SFN is important as it provides a basis for etiological work-up and treatment decisions. The diagnosis of SFN is sometimes challenging as the clinical picture can be difficult to interpret and standard electromyography is normal. In cases of suspected SFN, measurement of intraepidermal nerve fiber density through a skin biopsy and/or analysis of quantitative sensory testing can enable diagnosis. The purpose of the present review is to summarize the current knowledge about corneal nerves in different SFN. Specifically, we explore the correlation between nerve density and morphology and type of SFN, disease duration, and follow-up. We will discuss the relationship between cataracts and refractive surgery and iatrogenic dry eye disease. Furthermore, these new paradigms in SFN present an opportunity for neurologists and clinical specialists in the diagnosis and monitoring the peripheral small fiber polyneuropathies.

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“…Beading frequency was not considered [ 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 , 92 , 93 , 94 , 97 ].…”

Section: Resultsmentioning

confidence: 99%

“…Zangh et al reported that in transthyretin familial amyloid polyneuropathy (TTR-FAP) patients all CCM parameters were significantly reduced with disease progression. IWL (Inferior whorl length) ( p = 0.006), CNFL ( p = 0.005), CNBD ( p = 0.008), and CNFD ( p = 0.014) were significantly lower in early-phase patients [ 84 ].…”

Section: Resultsmentioning

confidence: 99%

Corneal Sub-Basal Nerve Plexus in Non-Diabetic Small Fiber Polyneuropathies and the Diagnostic Role of In Vivo Corneal Confocal Microscopy

Roszkowska

Wylęgała

Gargiulo

et al. 2023

JCM

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“…Corneal nerve loss occurs in patients with Charcot Marie Tooth disease type 1A [ 53 ] and in severe peripheral neuropathy associated with a rare nerve growth factor-β mutation [ 54 ]. We have also demonstrated corneal nerve loss in patients with Friedreich’s ataxia [ 55 ] and neurofibromatosis type 1 [ 56 ].…”

Section: Ccm In Other Peripheral Neuropathiesmentioning

confidence: 99%

Corneal Confocal Microscopy and the Nervous System: Introduction to the Special Issue

Malik

Efron

2022

JCM

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“…The severity of corneal nerve loss has been related to the number of GAA repeats and clinical disability assessed using the Scale for the Assessment and Rating of Ataxia and Friedreich's Ataxia Rating Scale ( 50 ). In a cohort of 51 patients with neurofibromatosis type 1, 8% had abnormal nerve conduction studies, 13% had abnormal thermal thresholds, 22% had abnormal intraepidermal nerve fiber density, however, 52% had reduced corneal nerve fiber length ( 51 ).…”

Section: Ccm In Peripheral Neuropathiesmentioning

confidence: 99%

Corneal Confocal Microscopy to Image Small Nerve Fiber Degeneration: Ophthalmology Meets Neurology

et al. 2021

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Neuropathic pain has multiple etiologies, but a major feature is small fiber dysfunction or damage. Corneal confocal microscopy (CCM) is a rapid non-invasive ophthalmic imaging technique that can image small nerve fibers in the cornea and has been utilized to show small nerve fiber loss in patients with diabetic and other neuropathies. CCM has comparable diagnostic utility to intraepidermal nerve fiber density for diabetic neuropathy, fibromyalgia and amyloid neuropathy and predicts the development of diabetic neuropathy. Moreover, in clinical intervention trials of patients with diabetic and sarcoid neuropathy, corneal nerve regeneration occurs early and precedes an improvement in symptoms and neurophysiology. Corneal nerve fiber loss also occurs and is associated with disease progression in multiple sclerosis, Parkinson's disease and dementia. We conclude that corneal confocal microscopy has good diagnostic and prognostic capability and fulfills the FDA criteria as a surrogate end point for clinical trials in peripheral and central neurodegenerative diseases.

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Evidence of small‐fiber neuropathy in neurofibromatosis type 1

Cited by 13 publications

References 25 publications

Corneal Sub-Basal Nerve Plexus in Non-Diabetic Small Fiber Polyneuropathies and the Diagnostic Role of In Vivo Corneal Confocal Microscopy

Corneal Sub-Basal Nerve Plexus in Non-Diabetic Small Fiber Polyneuropathies and the Diagnostic Role of In Vivo Corneal Confocal Microscopy

Corneal Confocal Microscopy and the Nervous System: Introduction to the Special Issue

Corneal Confocal Microscopy to Image Small Nerve Fiber Degeneration: Ophthalmology Meets Neurology

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