Almanac of Clinical MedicineAlmanac of Clinical Medicine2072-05052587-9294Moscow Regional Research and Clinical Institute (MONIKI)85810.18786/2072-0505-2018-46-4-384-389Choroidal melanoma, simulating an optic nerve tumor: a clinical caseAmiryanA. G.<p><strong>Anush G. Amiryan – </strong>MD, PhD, Leading Research Fellow, Department of Ophthalmic Oncology and Radiology </p><p><em>14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062</em><em></em></p><p> </p>amiryan@yandex.ruPanteleevaO. G.<p><strong>Olga G. Panteleeva – </strong>MD, PhD, Leading Research Fellow, Department of Ophthalmic Oncology and Radiology</p><p><em>14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062</em><em></em></p>fake@neicon.ruMayboginA. M.<p><strong>Artemiy M. Maybogin – </strong>MD, Pathologist, Department of Pathological Anatomy and Histology</p><p><em>14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062</em><em></em></p>fake@neicon.ruTsygankovA. Yu.<p><strong>Alexander Yu. Tsygankov</strong> – MD, PhD, Junior Research Fellow, Department of Ophthalmic Oncology and Radiology</p><p><em>14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062</em><em></em></p>fake@neicon.ruSaakyanS. V.<p><strong>Svetlana V. Saakyan – </strong>MD, PhD, Professor, Head of Department of Ophthalmic Oncology and Radiology </p><p><em>14/19 Sadovaya-Chernogryazskaya ul., Moscow, 105062</em><em></em></p>fake@neicon.ruMoscow Helmholtz Research Institute of Eye Diseases260920184643843892409201824092018Copyright © 2018, Amiryan A.G., Panteleeva O.G., Maybogin A.M., Tsygankov A.Y., Saakyan S.V.2018Choroidal melanoma is a primary malignant intraocular tumor with unfavorable vital prognosis. Factors predisposing to invasion of choroidal melanoma into the optic nerve include its juxtapapillary localization, the large tumor size, its diffuse growth, the presence of necrosis in the tumor, increased intraocular pressure and the epithelioid cell type of the tumor. The authors describe the clinical case of a 31-year-old patient with a primary diagnosis of an optic nerve neoplasm. Peripapillary edema and indistinct optic disc margins were found by ophthalmoscopy. There was a slightly protruding gray-slate lesion with indistinct boundaries near the optic nerve disc. The retina was edematous with multiple merging hemorrhages. The data obtained by echography (the focus protruding both inside the eye and along the optic nerve trunk), color Doppler mapping (single own vessels in the projection of the orbital part of the mass) and computed tomography allowed for the suspicion of the primary choroidal melanoma. To clarify the nature of the process, a trans-conjunctival orbitotomy with a revision of the orbit and the optic nerve was performed. The expansion of the proximal part of the optic nerve with partial breakthrough of the optic nerve shells was revealed intraoperatively. The patient underwent enucleation with morphological and molecular genetic verification of the primary choroidal melanoma with invasion of the optic nerve. The data obtained (absence of chromosome 3 monosomy, deletion of the short arm of chromosome 1, methylation of promoter regions of the <em>RASSF1A </em>gene, mutations in the 4 and 5 exons of the <em>GNAQ </em>gene, <em>CT </em>genotype of the polymorphic marker <em>C3435T </em>of the <em>ABCB1 </em>gene) indicate a relatively favorable vital prognosis, despite the extrascleral growth of the tumor and its mixed cell type. The patient underwent a course of anti-relapse proton irradiation of the orbit with a total dose of 58.8 Gy at 80–90% isodose. Currently, 7 years after the treatment, the patient continues to be followed up by ophthalmologists and oncologists, without any signs of local recurrence and distant metastases. 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