S.M. ZEMLYANUSHINA¹, E.A. VASHKULATOVA^1,2, L.S. ZEMLYANUSHIN¹, A.A. SOKOLOVA^1,2, G.T. BALAGDASHOVA²                                                                                                                                  

¹Khanty-Mansiysk State Medical Academy, Khanty-Mansiysk

²Regional Clinical Hospital, Khanty-Mansiysk

Contact details:

Zemlyanushina S.M. — 6^th year student

Address: 628011, 40 Mira Str., Khanty-Mansiysk, tel.: +7-982-507-87-41, e-mail: sophia9704@gmail.com

 The article discusses the clinical case of Leber’s hereditary optic neuropathy for two and a half years in a child. The debut of the disease occurred at the age of 13 years in the form of a simultaneous bilateral decrease in vision, with subsequent atrophy of the optic nerves of both eyes. Ophthalmic status during initial treatment: Vis OD 0.06 n/a, Vis OS 0.06 n/a; visual fields are narrowed from the temples by 5-15 degrees. Ophthalmoscopy and optical coherence tomography showed signs of edema of the optic disc of both eyes. Electroretinography showed a tendency to suppression. No changes were detected in the neurological status. DNA testing revealed secondary mutations of mitochondrial DNA — T4216C, G13708A. The final diagnosis was Leber’s hereditary optic atrophy. Currently revealed: Vis OD = 0.5, Vis OS = 0.8, perimetry — narrowing of the peripheral borders. According to optical coherence tomography, changes in the optic disc are characteristic of atrophy. Against the background of atrophic changes in the optic disc, a positive dynamics of visual functions is noted for a long time.

Key words: Leber’s hereditary optic neuropathy, mitochondria, neuro-ophthalmology, mitochondrial DNA.

(For citation: Zemlyanushina S.M., Vashkulatova E.A., Zemlyanushin L.S., Sokolova A.A., Balagdashova G.T. Clinical case analysis: hereditary optical Leber’s neuropathy. Practical Medicine. 2019. Vol. 17, № 7,P. 170-172)

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