Bilateral vision loss due to Leber’s hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse

Abstract

Purpose

Leber’s hereditary optic neuropathy is relatively rare, and no clinical pathognomonic signs exist. We present a rare case of bilateral vision loss of a patient with multiple drug abuse in the history.

Observation

A 31-year-old man presented with a history of progressive, decreased vision in both eyes for 6 month. On examination, his visual acuity was hand motion in both eyes. Funduscopy demonstrated a temporal pallor of the optic disc. Goldmann visual field perimetry showed a crescent visual field in the right eye and a circular decrease to less than 50 ° in the left eye. Electroretinogram showed a scotopic b-wave amplitude reduction. Optical coherence tomographies, Heidelberg Retina tomography, visual evoked potentials, and magnetic resonance imaging with contrast as well as blood tests were normal. The patient reported to consume various kinds of drugs as well as recreational drug use and alcohol consumption since he was 16 years old. We started a hemodilution therapy, believing the patient suffered from a bilateral, toxic optic neuropathy due to his lifestyle. Laboratory results later on showed Leber’s hereditary optic neuropathy.

Conclusion and importance

Leber’s hereditary optic neuropathy is a rare disease without a typical, pathognomonic presentation. Even though the patient gave good reasons for a toxic optic neuropathy, one should never stop to test for other diseases.

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References

  1. 1.

    Yu-Wai-Man P, Chinnery PF (1993) Leber Hereditary Optic Neuropathy. University of Washington, Seattle

    Google Scholar 

  2. 2.

    Harding AE, Sweeney MG, Govan GG, Riordan-Eva P (1995) Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 57(1):77–86

    CAS  PubMed  PubMed Central  Google Scholar 

  3. 3.

    McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M (2015) ISCEV standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 130(1):1–12

    Article  PubMed  Google Scholar 

  4. 4.

    Odom JV, Bach M, Brigell M, Holder GE, McCulloch DL, Mizota A, Tormene AP, International Society for Clinical Electrophysiology of Vision (2016) ISCEV standard for clinical visual evoked potentials: (2016 update). Doc Ophthalmol 133(1):1–9

    Article  PubMed  Google Scholar 

  5. 5.

    Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF (2008) Inherited mitochondrial optic neuropathies. J Med Genet 46(3):145–158

    Article  PubMed  PubMed Central  Google Scholar 

  6. 6.

    Newman NJ (2005) Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol 140(3):517.e1–517.e9

    Article  Google Scholar 

  7. 7.

    Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE (1995) The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118(Pt 2):319–337

    Article  PubMed  Google Scholar 

  8. 8.

    DiMauro S, Schon EA (2008) Mitochondrial disorders in the nervous system. Annu Rev Neurosci 31(1):91–123

    CAS  Article  PubMed  Google Scholar 

  9. 9.

    Newman NJ, Biousse V, Newman SA, Bhatti MT, Hamilton SR, Farris BK, Lesser RL, Turbin RE (2006) Progression of visual field defects in Leber hereditary optic neuropathy: experience of the LHON treatment trial. Am J Ophthalmol 141(6):1061.e1–1067.e1

    Article  Google Scholar 

  10. 10.

    Majander A, Robson AG, João C, Holder GE, Chinnery PF, Moore AT, Votruba M, Stockman M, Yu-Wai-Man P (2017) The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy. Mitochondrion 36:138–149

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  11. 11.

    Jancic-Stefanovic J, Kostic V, Carelli V (2007) Visual evoked potentials (VEP) and brainstem evoked potentials (BAEP) as diagnostic procedures in Leber’s hereditary optic neuropathy. Clin Neurophysiol 118(4):e119

    Article  Google Scholar 

  12. 12.

    Akiyama H, Kashima T, Li D, Shimoda Y, Mukai R, Kishi S (2013) Retinal ganglion cell analysis in Leber’s hereditary optic neuropathy. Ophthalmology 120(9):1943.e5–1944.e5

    Article  Google Scholar 

  13. 13.

    Zhang Y, Huang H, Wei S, Qiu H, Gong Y, Li H, Dai Y, Jiang Z, Liu Z (2014) Characterization of retinal nerve fiber layer thickness changes associated with Leber’s hereditary optic neuropathy by optical coherence tomography. Exp Ther Med 7(2):483–487

    Article  PubMed  Google Scholar 

  14. 14.

    Mizoguchi A, Hashimoto Y, Shinmei Y, Nozaki M, Ishijima K, Tagawa Y, Ishida S (2015) Macular thickness changes in a patient with Leber’s hereditary optic neuropathy. BMC Ophthalmol 15:27

    Article  PubMed  PubMed Central  Google Scholar 

  15. 15.

    Balducci N, Savini G, Cascavilla ML, La Morgia C, Triolo G, Giglio R, Carbonelli M, Parisi V, Sadun AA, Bandello F, Carelli V, Barboni P (2016) Macular nerve fibre and ganglion cell layer changes in acute Leber’s hereditary optic neuropathy. Br J Ophthalmol 100(9):1232–1237

    Article  PubMed  Google Scholar 

  16. 16.

    Wang MY, Sadun AA, Chan JW (2014) Nutritional and toxic optic neuropathies. In: Chan JW (ed) Optic nerve disorders, 1st edn. Springer, New York, pp 177–207

    Google Scholar 

  17. 17.

    Grzybowski A, Zülsdorff M, Wilhelm H, Tonagel F (2015) Toxic optic neuropathies: an updated review. Acta Ophthalmol 93(5):402–410

    Article  PubMed  Google Scholar 

  18. 18.

    Kerrison J (2004) Optic neuropathies caused by toxins and adverse drug reactions. Ophthalmol Clin N Am 17(3):481–488

    Article  Google Scholar 

  19. 19.

    Behbehani R, Sergott RC, Savino PJ (2005) Tobacco–alcohol amblyopia: a maculopathy? Br J Ophthalmol 89(11):1543–1544

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  20. 20.

    Potts AM (1973) Tobacco amblyopia. Surv Ophthalmol 17(5):313–339

    CAS  PubMed  Google Scholar 

  21. 21.

    Nazliel B, Arikan Z, İrkec C (2007) Visual evoked potentials in chronic alcoholism. Addict Behav 32(7):1470–1473

    Article  PubMed  Google Scholar 

  22. 22.

    Kupersmith MJ, Weiss PJA, Carr RE (1983) The visual-evoked potential in tobacco–alcohol and nutritional amblyopia. Am J Ophthalmol 95(3):307–314

    CAS  Article  PubMed  Google Scholar 

  23. 23.

    Pawlosky RJ, Bacher J, Salem N (2001) Ethanol consumption alters electroretinograms and depletes neural tissues of docosahexaenoic acid in rhesus monkeys: nutritional consequences of a low n-3 fatty acid diet. Alcohol Clin Exp Res 25(12):1758–1765

    CAS  Article  PubMed  Google Scholar 

  24. 24.

    Sharma P, Sharma R (2011) Toxic optic neuropathy. Indian J Ophthalmol 59(2):137–141

    Article  PubMed  PubMed Central  Google Scholar 

  25. 25.

    Atkins EJ, Bruce BB, Newman NJ, Biousse V (2010) Treatment of nonarteritic anterior ischemic optic neuropathy. Surv Ophthalmol 55(1):47–63

    Article  PubMed  PubMed Central  Google Scholar 

  26. 26.

    Newman NJ, Scherer R, Langenberg P, Kelman S, Feldon S, Kaufman D, Dickersin K (2002) The fellow eye in NAION: report from the ischemic optic neuropathy decompression trial follow-up study. Am J Ophthalmol 134(3):317–328

    Article  PubMed  Google Scholar 

  27. 27.

    Giambene B, Sodi A, Sofi F, Marcucci R, Fedi S, Abbate R, Prisco D, Menchini U (2009) Evaluation of traditional and emerging cardiovascular risk factors in patients with non-arteritic anterior ischemic optic neuropathy: a case-control study. Graefe’s Arch Clin Exp Ophthalmol 247(5):693–697

    Article  Google Scholar 

  28. 28.

    Salomon O, Huna-Baron R, Kurtz S, Steinberg DM, Moisseiev J, Rosenberg N, Yassur I et al (1999) Analysis of prothrombotic and vascular risk factors in patients with nonarteritic anterior ischemic optic neuropathy. Ophthalmology 106(4):739–742

    CAS  Article  PubMed  Google Scholar 

  29. 29.

    Kerr NM, Chew SSSL, Danesh-Meyer HV (2009) Non-arteritic anterior ischaemic optic neuropathy: a review and update. J Clin Neurosci 16(8):994–1000

    Article  PubMed  Google Scholar 

  30. 30.

    Wilson WB (1978) Visual-evoked response differentiation of ischemic optic neuritis from the optic neuritis of multiple sclerosis. Am J Ophthalmol 86(4):530–535

    CAS  Article  PubMed  Google Scholar 

  31. 31.

    Froehlich J, Kaufman DI (1994) Use of pattern electroretinography to differentiate acute optic neuritis from acute anterior ischemic optic neuropathy. Electroencephalogr Clin Neurophysiol 92(6):480–486

    CAS  Article  PubMed  Google Scholar 

  32. 32.

    Yu-Wai-Man P, Griffiths PG, Chinnery PF (2011) Mitochondrial optic neuropathies—disease mechanisms and therapeutic strategies. Prog Retin Eye Res 30(2):81–114

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  33. 33.

    Fraser JA, Biousse V, Newman NJ (2010) The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol 55(4):299–334

    Article  PubMed  PubMed Central  Google Scholar 

  34. 34.

    Macmillan C, Kirkham T, Fu K, Allison V, Andermann E et al (1998) Pedigree analysis of French Canadian families with T14484C Leber’s hereditary optic neuropathy. Neurology 50(2):417–422

    CAS  Article  PubMed  Google Scholar 

  35. 35.

    Meyerson C, Van Stavern G, McClelland C (2015) Leber hereditary optic neuropathy: current perspectives. Clin Ophthalmol 9:1165–1176

    CAS  PubMed  PubMed Central  Google Scholar 

  36. 36.

    Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF (2009) Gene–environment interactions in Leber hereditary optic neuropathy. Brain 132(9):2317–2326

    Article  PubMed  PubMed Central  Google Scholar 

  37. 37.

    Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF (2014) Treatment strategies for inherited optic neuropathies: past, present and future. Eye (Lond) 28(5):521–537

    CAS  Article  Google Scholar 

  38. 38.

    Raxone | ARZNEI-NEWS.de. https://arznei-news.de/raxone/. Accessed 7 July 2017

  39. 39.

    Lyseng-Williamson KA (2016) Idebenone: a review in Leber’s hereditary optic neuropathy. Drugs 76(7):805–813

    CAS  Article  PubMed  Google Scholar 

  40. 40.

    Carelli V, on behalf of the Consensus Study Group (2016) Consensus on guidelines for idebenone administration in Leber’s hereditary optic neuropathy (LHON). Acta Ophthalmol. https://doi.org/10.1111/j.1755-3768.2016.0502

    Google Scholar 

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Correspondence to Johanna Maass.

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Maass, J., Matthé, E. Bilateral vision loss due to Leber’s hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse. Doc Ophthalmol 136, 145–153 (2018). https://doi.org/10.1007/s10633-018-9622-5

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Keywords

  • Leber’s hereditary optic neuropathy
  • Orphan disease
  • No clinical pathognomonic signs
  • Bilateral vision loss
  • Drug abuse