Zusammenfassung
Es wird über einen Fall mit Leberscher hereditärer Optikusneuropathie berichtet, um auf diese seltene mitochondriale Erkrankung in der Differenzialdiagnostik hinzuweisen und aktuelle Therapieoptionen aufzuzeigen. In diesem Fall konnte trotz eines sehr schlechten Ausgangsvisus und späten Beginns der Therapie eine für den Patienten relevante Visusbesserung ermöglicht werden.
Abstract
A case of Leber’s hereditary optic neuropathy is reported in order to draw attention to this rare mitochondrial disease in the differential diagnostics and to show current treatment options. In this case despite very poor initial visual acuity and late start of treatment an improvement of visual acuity relevant for the patient could be achieved.
Literatur
Gallenmüller C, Klopstock T (2014) Lebersche hereditäre Optikusneuropathie – Klinik, Genetik, therapeutische Optionen. Klin Monbl Augenheilkd 231(3):216–221
Mascialino B, Leinonen M, Meier T (2012) Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. Eur J Ophthalmol 22(3):461–465
Manickam AH, Michael MJ, Ramasamy S (2017) Mitochondrial genetics and therapeutic overview of Leber’s hereditary optic neuropathy. Indian J Ophthalmol 65(11):1087–1092
Mackey DA, Oostra RJ, Rosenberg T et al (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59:481–485
Man PY, Griffiths PG, Brown DT et al (2003) The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 72:333–339
Hudson G, Carelli V, Spruijt L et al (2007) Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 81:228–233
Carelli V, Franceschini F, Venturi S et al (2007) Grand rounds: could occupational exposure to n‑hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? Environ Health Perspect 115:113–115
Pisano A, Preziuso C, Iommarini L, Perli E, Grazioli P, Campese AF, Maresca A, Montopoli M, Masuelli L, Sadun AA, d’Amati G, Carelli V, Ghelli A, Giordano C (2015) Targeting estrogen receptor β as preventive therapeutic strategy for Leber’s hereditary optic neuropathy. Hum Mol Genet 24(24):6921–6931. https://doi.org/10.1093/hmg/ddv396
Sadun AA, Carelli V, Salomao SR et al (2003) Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 136:231–238
Kirkman MA, Yu-Wai-Man P, Korsten A et al (2009) Gene-environment interactions in Leber hereditary optic neuropathy. Brain 132:2317–2326
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
Carelli V, Ross-Cisneros FN, Sadun AA (2004) Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 23:53–89
Carelli V, Ross-Cisneros FN, Sadun AA (2002) Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies. Neurochem Int 40(6):573–584. https://doi.org/10.1016/s0197-0186(01)00129-2
Giraudet S, Lamirel C, Amati-Bonneau P et al (2011) Never too old to harbour a young man’s disease? Br J Ophthalmol 95(6):896–897. https://doi.org/10.1136/bjo.2009.161539
Rudolph G, Dimitriadis K, Buchner B et al (2013) Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. J Neuroophthalmol 33:30–36
Fraser JA, Biousse V, Newman NJ (2010) The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol 55:299–334
Nikoskelainen EK, Huoponen K, Juvonen V et al (1996) Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 103:504–514
La Morgia C, Ross-Cisneros FN, Sadun AA et al (2010) Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies. Brain 133:2426–2438
Spruijt L, Kolbach DN, de Coo RF et al (2006) Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol 141:676–682
Huoponen K (2001) Leber hereditary optic neuropathy: Clinical and molecular genetic findings. Neurogenetics 3:119–125
Mashima Y, Kimura I, Yamamoto Y et al (2003) Optic disc excavation in the atrophic stage of Leber’s hereditary optic neuropathy: Comparison with normal tension glaucoma. Graefes Arch Clin Exp Ophthalmol 241:75–80
Nikoskelainen EK, Marttila RJ, Huoponen K et al (1995) Leber’s “plus”: Neurological abnormalities in patients with Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 59:160–164
Birtel J, Gliem M, Holz FG, Herrmann P (2018) Bildgebung und molekulargenetische Diagnostik zur Charakterisierung von Netzhautdystrophien. Ophthalmologe 115:1021–1027
Johns DR, Smith KH, Miller NR (1992) Leber’s hereditary optic neuropathy. Clinical manifestations of the 3460 mutation. Arch Ophthalmol 110:1577–1581
Nakamura M, Yamamoto M (2000) Variable pattern of visual recovery of Leber’s hereditary optic neuropathy. Br J Ophthalmol 84:534–535
Newman NJ, Lott MT, Wallace DC (1991) The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 111:750–762
Stone EM, Newman NJ, Miller NR et al (1992) Visual recovery in patients with Leber’s hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol 12:10–14
Varsori M, Perez-Fornos A, Safran AB et al (2004) Development of a viewing strategy during adaptation to an artificial central scotoma. Vision Res 44:2691–2705
Lyseng-Williamson KA (2016) Idebenone: A review in Leber’s hereditary optic neuropathy. Drugs 76(7):805–813
Klopstock T, Yu-Wai-Man P, Dimitriadis K et al (2011) A randomized placebocontrolled trial of idebenone in Leber’s hereditary optic neuropathy. Brain 134:2677–2686
Klopstock T, Metz G, Yu-Wai-Man P et al (2013) Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy. Brain 136:e230
Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P (2017) International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy. J Neuroophthalmol 37(4):371–381
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
Bailie M, Votruba M, Griffiths PG et al (2013) Visual and psychological morbidity among patients with autosomal dominant optic atrophy. Acta Ophthalmol 91:e413–e414
Kogachi K, Ter-Zakarian A, Asanad S, Sadun A, Karanjia R (2018) Toxic medications in Leber’s hereditary optic neuropathy. Mitochondrion. https://doi.org/10.1016/j.mito.2018.07.007
Sadun AA, Chicani CF, Ross-Cisneros FN et al (2012) Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. Arch Neurol 69:331–338
Szeto HH (2014) First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics. Br J Pharmacol 171(8):2029–2050
Perales-Clemente E, Fernández-Silva P, Acín-Pérez R, Pérez-Martos A, Enríquez JA (2011) Allotopic expression of mitochondrial-encoded genes in mammals: Achieved goal, undemonstrated mechanism or impossible task? Nucleic Acids Res 39(1):225–234. https://doi.org/10.1093/nar/gkq769
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A. Rickmann, L. Wocker, L.‑J. Damm, C. Ivanescu, P. Szurman und N. Pérez Guerra geben an, dass kein Interessenkonflikt besteht.
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Rickmann, A., Wocker, L., Damm, LJ. et al. LHON – Behandlungsoption trotz schlechtem Ausgangsvisus?. Ophthalmologe 116, 970–974 (2019). https://doi.org/10.1007/s00347-019-0864-8
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DOI: https://doi.org/10.1007/s00347-019-0864-8