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Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot–Marie–Tooth disease



To evaluate the spectral-domain optical coherence tomography (SD-OCT) findings and pattern visual evoked potential (VEP) in Charcot–Marie–Tooth (CMT) disease.


Seventeen patients with CMT disease and 17 control subjects were included in the study. The patients were divided into two groups according to conduction velocity and inheritance pattern as demyelinating type (CMT 1) and axonal type (CMT 2). The average retinal nerve fiber layer (RNFL) thickness, RNFL thicknesses of all quadrants, and thicknesses of the ganglion cell layer complex (GCC) were measured using SD-OCT. Pattern VEP recordings were evaluated in both groups.


The average and four quadrants of RNFL thicknesses, and superior and inferior GCC thicknesses were significantly thinner in the CMT patients compared with healthy individuals, but there were no statistically significant differences between the CMT groups. There was a significant positive correlation between age and all RNFL and GCC thicknesses in the CMT 2 group and between age and RNFL thickness of the temporal quadrant in the CMT 1 group. P100 latencies were significantly delayed in the CMT groups compared with controls, and there were no significant differences in P100 latencies between the CMT groups (p < 0.001). VEP amplitudes were in normal ranges in the CMT groups.


This study showed that RNFL and GCC thicknesses were significantly reduced and VEP latencies were prolonged in patients with CMT with normal clinical examinations. Our results suggest that optic nerves may be affected more frequently in patients with CMT that is detected in clinical examinations.

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  1. Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooth’s disease. Clin Genet 6:98–118

    CAS  Article  Google Scholar 

  2. Dyck PJ, Chance P, Lebo R, Carney JA (1994) Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA and Poduslo JF (Eds.), Peripheral Neuropathy, 3rd edn., W.B. Saunders Co., Philadelphia, PA, pp 1094–1136.

  3. Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S et al (2014) Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. JAMA Neurol 71:1036–1042

    Article  Google Scholar 

  4. Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, CeutericK C et al (2006) MFN2 mutation distribution and genotype/ phenotype correlation in Charcot-Marie-Tooth type 2. Brain 129:2093–2102

    Article  Google Scholar 

  5. Di Meglio C, Bonello-Palot N, Boulay C, Milh M, Ovaert C, Levy N, Chabrol B (2016) Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation. Brain Dev 38:498–506

    Article  Google Scholar 

  6. Hamedani AG, Wilson JA, Avery RA, Scherer SS (2021) Optic Neuropathy in Charcot–Marie–Tooth Disease. J Neuroophthalmol 41(2):233–238

    Article  Google Scholar 

  7. Botsford B, Vuong LN, Hedges III TR, Mendoza-Santiesteban CE (2017) Characterization of Charcot–Marie–Tooth optic neuropathy. J Neurol 264(12):2431–2435.

    Article  PubMed  Google Scholar 

  8. Knopp M, Leese RJ, Martin-Lamb D, Rajabally YA (2014) Optic and auditory pathway dysfunction in demyelinating neuropathies. Acta Neurol Scand 130(1):53–57

    CAS  Article  Google Scholar 

  9. Bird TD (1981) Pattern reversal visual evoked potentials: studies in Charcot-Marie-Tooth hereditary neuropathy. Archives Neurol 38(12):739.

    CAS  Article  Google Scholar 

  10. Gadoth N, Gordon CR, Bleich N, Pratt H (1991) Three modality evoked potentials in Charcot-Marie-Tooth disease (HMSN-1). Brain Dev 13:91–94

    CAS  Article  Google Scholar 

  11. Al-Mateen M, Craig AK, Chance PF (2014) The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults. J Child Neurol 29:342–348

    Article  Google Scholar 

  12. Ando M, Hashiguchi A, Okamoto Y, Yoshimuro A, Hiramatsu Y, Yuan J et al (2017) Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. J Peripher Nerv Syst 22:191–199

    CAS  Article  Google Scholar 

  13. Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbrach M et al (2016) Diagnostic algorithms in charcot-marie-tooth neuropathies: experiences from a german genetic laboratory on the basis of 1206 index patients. Clin Genet 89:34–43

    Article  Google Scholar 

  14. Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS et al (2011) Mfn2 mutations cause severe phenotypes in most patients with cmt2a. Neurology 76:1690–1696

    CAS  Article  Google Scholar 

  15. Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S et al (2006) Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Annal Neurol 59(2):276–281.

    CAS  Article  PubMed  Google Scholar 

  16. Iapadre G, Morana G, Vari MS, Pinto F et al (2018) A novel homozygous MFN2 mutation associated with severe and atypical CMT phenotype. Eur J Paediatr Neurol 22:563–567

    Article  Google Scholar 

  17. Guerriero S, D’Oria F, Rossetti G, Favale RA, Zoccolella S, Alessio G et al (2020) CMT2A harboring Mitofusin 2 mutation with optic nerve atrophy and normal visual acuity. Int Med Case Rep J 13:41

    Article  Google Scholar 

  18. Pisciotta C, Shy ME (2018) Neuropathy. Handbook Clin Neurol 148:653–665

    Article  Google Scholar 

  19. Odom JV, Bach M, Brigell M, Holder GE, McCulloch DL, Mizota A et al (2016) ISCEV standard for clinical visual evoked potentials:(2016 update). Doc Ophthalmol 133(1):1–9

    Article  Google Scholar 

  20. Rouzier C, Bannwarth S, Chaussenot A, Chevrollier A, Verschueren A, Bonello-Palot N et al (2012) The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy “plus” phenotype. Brain J Neurol 135:23–34

    Article  Google Scholar 

  21. Leonardi L, Marcotulli C, Storti E, Tessa A, Serrao M, Parisi V et al (2015) Acute optic neuropathy associated with a novel MFN2 mutation. Neurol 262:1678–1680

    CAS  Article  Google Scholar 

  22. El-Hattab AW, Suleiman J, Almannai M, Scaglia F (2018) Mitochondrial dynamics: biological roles, molecular machinery, and related diseases. Mol Genet Metab 125:315–321

    CAS  Article  Google Scholar 

  23. Chandhok G, Lazarou M, Neumann B (2018) Structure, function, and regulation of mitofusin-2 in health and disease. Biol Rev Camb Philos Soc 93:933–949

    Article  Google Scholar 

  24. Gaier ED, Boudreault K, Nakata I, Janessian M, Skidd P, DelBono E et al (2017) Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status. Mol Vis 23:548–560

    CAS  PubMed  PubMed Central  Google Scholar 

  25. Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW et al (2006) Early onset severe and late-onset mild Charcot–Marie–Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129(8):2103–2118

    CAS  Article  Google Scholar 

  26. Zuchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL et al (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot–Marie–Tooth neuropathy type 2A. Nat Genet 36(5):449–451

    Article  Google Scholar 

  27. Leblhuber F, Reisecker F, Mayr WR, Deisenhammer E (1986) Heterogeneity of hereditary motor and sensory neuropathy type I (HMSN I): Electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT). Acta Neurol Scand 74(2):145–149

    CAS  Article  Google Scholar 

  28. Alajouanine T (1967) Maladie de charcot-marie. Etude anatomo-clinique d’une observation suivipendent 65 ans. Press Med 75:2765–2750

    Google Scholar 

  29. Yu-Wai-Man P, Bailie M, Atawan A, Chinnery PF (2011) Grifths PG Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations. Eye 25(5):596–602

    CAS  Article  Google Scholar 

  30. Barboni P, Savini G, Valentino ML, Montagna P, Cortelli P, De Negri AM, Sadun F, Bianchi S, Longanesi L, Zanini M, de Vivo A (2005) Carelli V Retinal nerve fiber layer evaluation by optical coherence tomography in Leber’s hereditary optic neuropathy. Ophthalmology 112(1):120–126

    Article  Google Scholar 

  31. Gowrisankaran S, Anastasakis A, Fishman GA, Alexander KR (2011) Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI. Ophthalmic Genet 32(3):188–192

    Article  Google Scholar 

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Kaplan, A.T., Oskan Yalcin, S., Sager, S.G. et al. Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot–Marie–Tooth disease. Int Ophthalmol (2022).

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  • Demyelinating
  • Axonal type
  • Latency
  • Ganglion cell
  • Retinal nerve fiber layer