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Review
. 2022;29(1):9-18.
doi: 10.15388/Amed.2022.29.1.19. Epub 2022 Jun 29.

Clinical Overview of Leber Hereditary Optic Neuropathy

Almina Stramkauskaitė  1 , Ieva Povilaitytė  1 , Brigita Glebauskienė  1 , Rasa Liutkevičienė  1   2
Affiliations
Review

Clinical Overview of Leber Hereditary Optic Neuropathy

Almina Stramkauskaitė et al. Acta Med Litu. 2022.

Abstract
in English, Lithuanian

Leber hereditary ptic neuropathy (LHON) is a disease of young adults with bilateral, painless, subacute visual loss. The peak age of onset of LHON is in the second and third decades of life. Men are 4 times more likely to be affected than women. In about 25-50% of cases, both eyes are affected simultaneously. In unilateral cases, the other eye is usually affected 2 to 3 months later. Visual acuity deteriorates to counting fingers or worse with a dense central or centrocecal scotoma. In the subacute phase, the optic disc may appear hyperemic with swelling of the peripapillary retinal nerve fibre layer, peripapillary telangiectasias, and increased vascular tortuosity. Ocular coherence tomography of the macula shows marked thinning of the ganglion cell complex even at this stage. The diagnosis of LHON is made in a subject with a consistent clinical history and/or one of three common pathogenic mitochondrial DNA (mtDNA) variants identified by molecular genetic testing. Idebenone was approved by the European Medicines Agency under exceptional circumstances for the treatment of LHON. Current evidence suggests some benefit to vision in a subset of affected individuals treated with idebenone, particularly when treated within the first year of onset of vision loss. In this article, we discuss aetiology, clinical features, diagnosis, differential dignosis, prognosis and treatment.

Paveldima Lėberio optinė neuropatija (PLON) jaunų suaugusiųjų liga, pasireiškianti abipusiu, beskausmiu, poūmiu regos praradimu. PLON dažniausiai prasideda antrame ir trečiame gyvenimo dešimtmečiais. Vyrai šia liga serga keturis kartus dažniau nei moterys. Apie 25–50 % atvejų, abi akys pažeidžiamos tuo pačiu metu. Vienpusio regos nervo pažeidimo atvejais kitoje akyje panašūs simptomai pasireiškia po 2–3 mėnesių. Regos aštrumas mažėja iki pirštų skaičiavimo ar dar blogiau, taip pat nustatoma centrinė ar centrocekalinė skotoma. Poūmėje fazėje matomas hipereminis regos nervo diskas kartu su peripapiliniu tinklainės nervinių skaidulų pluošto (TNSP) paburkimu, peripapilinėmis telangiektazijomis, padidėjęs kraujagyslių vingiuotumas. Optinė koherentinė tomografija (OKT) rodo esant žymų ganglinių ląstelių suplonėjimą geltonojoje dėmėje. PLON diagnozė nustatoma remiantis nuoseklia klinikine istorija ir (ar) molekuliniais genetiniais tyrimais, nustačius vieną iš trijų patogenetinių mitochondrinės DNR (mtDNR) mutacijų. Idebenonas buvo patvirtintas Europos vaistų agentūros PLON gydyti. Įrodyta, kad regėjimas pagerėjo daliai pacientų, kai gydymas idebenonu buvo pradėtas per pirmuosus metus nuo regos aštrumo blogėjimo. Šiame straipsnyje aptariama PLON etiologija, klinikiniai požymiai, diagnozė ir gydymas.

Keywords: Leber hereditary optic neuropathy; aetiology; clinical features; diagnosis; treatment.

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Figures

Figure 1.
Figure 1.. (a, b) Bilateral optic nerve atrophy.
Figure 2.
Figure 2.. OCT shows thinning of retinal nerve fiber layer.
See this image and copyright information in PMC

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