A case of Leber optic atrophy in childhood

Authors

  • M. Koleva UHATNP "St.Naum"; Medical university – Sofia
  • F. Mehmedova SOBAL „D-r Taskov” – Тargovishte
  • S. Cherninkova Medical university – Sofia
  • K. Каmenarova Molecular Medicine Center – Sofia
  • V. Bojinova UHATNP „St. Naum”

Keywords:

Leber hereditary optic neuropathy, childhoodonset disease, mitochondrial inheritance

Abstract

Leber's hereditary optic neuropathy (LHON) is a rare, mitochondrial neurodegenerative disease affecting the optic nerve with an incidence of about 1:45,000 in the European population. In about 90%, the disease is caused by three most common point mutations in mitochondrial DNA - (m.11778G.A/MTND4, m.3460G.A/MT-ND1, m.14484T.C/MTND6).
It is characterized by a painless loss of central vision – sequentially or simultaneously in both eyes, with different speed of progression of the clinical picture. Cases of onset have been described from 2 to 80 years of age, with the peak of involvement occurring in the second and third decade of life, with a predominant male gender involvement (80-90%). According to data from several conducted meta-analyses, the frequency of Leber's atrophy in childhood is about 15-20%.

References

Apinyawasisuk S, Chan JW, Arnold AC. Trauma-associated leber hereditary optic neuropathy. Neuro-Ophthalmology. 2016;40(4):192–196

Arianti A, Chuman H, Kajihara N, Sakamoto N, Nao N. Atypical clinical and neuroimaging findings in Leber’s hereditary optic neuropathy: a case report. JOJ Ophthalmol. 2018;6(5):555698

Barboni P, Savini G, Valentino ML, et al. Leber’s hereditary optic neuropathy with childhood onset. Invest Ophthalmol Vis Sci. 2006;47:5303–5309

Cunha AM, Vilares-Morgado R, Moleiro AF, Falcão-Reis F, Faria O. Childhood-Onset Leber Hereditary Optic Neuropathy: Particular Features. Int Med Case Rep J. 2021 Mar 12;14:163-169

Dombi E, Diot A, Morten K, et al. The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology. 2016;86:1921–1923

Eva P, Sanders MD, Govan GG, et al. The clinical features of leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 1995;118(Pt 2):319–337

Fraser JA, Biousse V, Newman NJ. The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol. 2010; 55, 299-334

Giordano C, Iommarini L, Giordano L, et al. Efficient mitochondrial bi006Fgenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy. Brain. 2014; 137, 335–353

Koenig, S. F. et all. Childhood onset Leber's Hereditary Optic Neuropathy (LHON) treated with Idebenone compared to an age-related untreated patient cohort. Invest. Ophthalmol. Vis. Sci. 2019, 60, 9, 1832

Lamirel C, Cassereau J, Cochereau I, et al. Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 2010, 81, 5, 578–580

Majander A, Bowman R, Poulton J. Childhood-onset Leber hereditary optic neuropathy. Br J Ophthalmol. 2017, 1–5

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

Newman NJ, Biousse V. Hereditary optic neuropathies. Eye. 2004;18:1144–1160

Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991, 111, 750–762

Nikoskelainen EK, Huoponen K, Juvonen V, et al. Ophthalmologic findings in Leber Hereditary Optic Neuropathy, with special reference to mtDNA mutations. Ophthalmology. 1996;103:504–514

Ong E, Biotti D, Abouaf L, et al. Teaching neuroimages: chiasmal enlargement and enhancement in leber hereditary optic neuropathy. Neurology. 2013,7, 126–127

Piotrowska A, Korwin M, Bartnik E, Tonska K. Leber hereditary optic neuropathy - historical report in comparison with the current knowledge. Gene. 2015, 555, 1, 41–49

Shemesh A, Sood G, Margolin E. Leber Hereditary Optic Neuropathy (LHON) [Updated 2022 Sep 24]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan.

Ueda K, Morizane Y, Shiraga F, et al. Nationwide epidemiological survey of leber hereditary optic neuropathy in japan. J Epidemiol. 2017,27, 9, 447–450.

Van Westen D, Hammar B, Bynke G. Magnetic resonance findings in the pregeniculate visual pathways in leber hereditary optic neuropathy. J Neuroophthalmol. 2013,31, 1, 48–51.

Yu-Wai-Man P, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet. 2002, 39, 162–169.

Published

01.12.2022

How to Cite

Koleva, M., F. Mehmedova, S. Cherninkova, Каmenarova K., and V. Bojinova. “A Case of Leber Optic Atrophy in Childhood”. Cephalgia, vol. 24, no. 1, Dec. 2022, pp. 42-46, https://glavobolie.org/journal/index.php/ce/article/view/60.

Issue

Section

CEPHALGIA