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Bulgarian Review of Ophthalmology

Leber`s hereditary optic neuropathy

S. Cherninkova

Abstract

Leber`s hereditary optic neuropathy (LHON) is a rare maternally inherited disease caused by mitochondrial DNA point mutations in genes encoding the MT-ND1, MT-ND4, MT-ND4L and MTND6 subunits of complex I in the mitochondrial respiratory chain. The most common mutations G11778A in MT-ND4 gene, G3460A in MT-ND1 gene and T14484C in MT-ND6 gene cause the disease in 90% of patients but there are also a number of less common mutations. LHON is characterized by bilateral acute or subacute optic neuropathy and usually occurs in young males. The common age at onset of visual failure is in second or third decade. The visual acuity is markedly diminished and the typical perimetric ? nding is bilateral central scotoma. Ophthalmoscopy reveals optic disc hyperemia, tortuous, telangiectatic peripapillary retinal vessels in the acute stage of LHON but bilateral optic atrophy after the acute stage is present. Recently the synthetic analogue of coenzyme Q10 Idebenone is an approved drug for LHON patients. Idebenone acts as an electron carrier transferring electrons directly to the complex III of the mitochondrial respiratory chain. In this way the production of mitochondrial adenosine triphosphate increases and the retinal ganglion cells are protected from oxidative damage.

Keywords

Leber`s hereditary optic neuropathy; neuro-ophthalmological symptomatology; genetic investigation

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DOI: http://dx.doi.org/10.14748/bro.v0i2.4514

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About The Author

S. Cherninkova
Clinic of Nervous diseases, University Alexandrovska Hospital, Medical University, Sofia
Bulgaria

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