Clinical observations of Leber hereditary optic neuropathy with and without neurological symptoms

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Abstract

Three case studies of adults with Leber hereditary optic neuropathy with and without neurological symptoms are presented. An elevated blood lactate level and changes in the activity of the mitochondrial enzymes in peripheral blood lymphocytes were noted. Mutations in the mitochondrial DNA (G3460A in one patient and G11778A in two patients) were found. The patient with a G3460A mutation, in addition to reduced visual acuity, was diagnosed with a cerebellar disorder due to cerebellar vermis hypoplasia. These changes are indications for prescribing energotropic drugs (idebenone, carnitine); carnosine can also be prescribed. These case studies show that patients with optic nerve atrophy should be assessed for Leber hereditary optic neuropathy. Differential diagnosis with multiple sclerosis should be performed, since this condition often presents as optic neuropathy.

About the authors

Sergey V. Kotov

M.F. Vladimirsky Moscow Regional Research and Clinical Institute

Author for correspondence.
Email: kotovsv@yandex.ru
ORCID iD: 0000-0002-8706-7317

D. Sci. (Med.), Head, Department of neurology, Faculty of advanced training for doctors

Russian Federation, Moscow

Olga P. Sidorova

M.F. Vladimirsky Moscow Regional Research and Clinical Institute

Email: sidorovaop2019@mail.ru
ORCID iD: 0000-0003-4113-5799

D. Sci. (Med.), Professor, Department of neurology, Faculty of advanced training for doctors

Russian Federation, Moscow

Elena V. Borodataya

M.F. Vladimirsky Moscow Regional Research and Clinical Institute

Email: eborodataya@gmail.com
ORCID iD: 0000-0002-0096-9140

Cand. Sci. (Biol.), methodologist, Department for work with residents and graduate students, Faculty of advanced training for doctors

Russian Federation, Moscow

Irina A. Vasilenko

M.F. Vladimirsky Moscow Regional Research and Clinical Institute

Email: vasilenko0604@gmail.com
ORCID iD: 0000-0002-6374-9786

D. Sci. (Med.), Head, Research laboratory

Russian Federation, Moscow

Alexander V. Borodin

M.F. Vladimirsky Moscow Regional Research and Clinical Institute

Email: borodinonav@yandex.ru
ORCID iD: 0000-0002-8439-7783

neurologist, Department of neurology

Russian Federation, Moscow

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Copyright (c) 2022 Kotov S.V., Sidorova O.P., Borodataya E.V., Vasilenko I.A., Borodin A.V.

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