Review of potential simultaneous operations for the surgical rehabilitation of patients with thyroid eye disease

D.S. Atarshchikov1, E.Yu. Korchemkina2 1Central Clinical Hospital and Polyclinic of the Department for Presidential Affairs, Moscow, Russian Federation 2Academy of Postgraduate Education of the Federal Scientific and Clinical Center of the Federal Medical Biological Agency of Russian Federation, Moscow, Russian Federation The importance of revising the traditional multi-stage approach to the surgical rehabilitation of patients with thyroid eye disease is supported by multiple reasons, such as high operation costs, anesthesia-related increase in a burden for patients, and repeated surgical incisions associated with a delayed healing of surgical wounds. Over the past two decades, the orbital surgeons have attempted to solve the problem by combining several operations into a single-stage procedure. The article reviews the results of studies elucidating various simultaneous surgical techniques for orbital decompression, because the surgical treatment of exophthalmos is a "cornerstone" in solving functional problems arising from Graves’ orbitopathy. Moreover, the optimal planning depends on the severity of aesthetic problems in the periorbital region and the associated changes of eyelids and midface. Thus, it is necessary to consider multiple potential solutions within a single anesthesia exposure, the availability of surgeons with the appropriate skills or the involvement of a multidisciplinary team. In conclusion, the authors, referring to their own experience and the latest articles in international editions, propose anatomical and physiological criteria for selecting candidates for simultaneous orbit decompression surgery and for predicting surgical treatment outcomes in such patients. Keywords: orbital decompression, eyelid retraction, simultaneous operations, restrictive strabismus, thyroid eye disease, canthoplasty, exophthalmos. For citation: Atarshchikov D.S., Korchemkina E.Yu. Review of potential simultaneous operations for the surgical rehabilitation of patients with thyroid eye disease. Russian Journal of Clinical Ophthalmology. 2022;22(3):187–190 (in Russ.). DOI: 10.32364/2311-7729-2022-22-3-187-190. </p

Disputable issues of the surgical strabismus correction in patients with Graves’ ophthalmopathy

D.S. Atarshchikov1, E.Yu. Korchemkina2 1Central Clinical Hospital and Polyclinic of the Department for Presidential Affairs, Moscow, Russian Federation 2Academy of Postgraduate Education of the Federal Scientific and Clinical Center of the Federal Medical Biological Agency of Russian Federation, Moscow, Russian Federation Graves’ ophthalmopathy (GO) is an autoimmune disease characterized by lymphocytic infiltration, fibroblast activation and the accumulation of collagen and glycosaminoglycans in the orbital tissues and extraocular muscles. Ultimately, the inflammatory changes cause restrictive strabismus in 17–51% of patients with GO. Meantime, the percentage of successful surgical management of strabismus in such patients varies within the 11–45% range, and the extent of inflammatory and fibrotic changes differs drastically even between the muscles located within the same orbit. Thus, every surgeon dealing with this problem makes every effort to find an optimal relationship between millimeters of resection or recession and prism diopters based on the published data and individual surgical performance. In the present review based on the analysis of scientific research, the emphasis is made on the most challenging issues of surgical strabismus management an d correction described in medical practice. Patients with GO who visit an ophthalmic surgeon should be cautioned in advance that it could be not possible to achieve fully binocular vision in all directions of gaze. Keywords: Graves’ ophthalmopathy, restrictive strabismus, postoperative drift, extraocular muscles, recession, resection. For citation: Atarshchikov D.S., Korchemkina E.Yu. Disputable issues of the surgical strabismus correction in patients with Graves’ ophthalmopathy. Russian Journal of Clinical Ophthalmology. 2022;22(4):254–257 (in Russ.). DOI: 10.32364/2311-7729-2022-22-4-254-257. </p

The study of interactome in Russian patients with Usher syndrome to select priority approaches in pathogenetically oriented treatment

M.E. Ivanova1, D.S. Atarshchikov2, A.M. Demchinsky3, V.V. Strelnikov4, D. Barh5, G.V. Poryadin6, L.M. Balashova7, J.M. Salmasi6 1LLC “Oftalmic”, Moscow, Russian Federation 2Central Clinical Hospital under Presidential Affairs, Moscow, Russian Federation 3Autonomous nonprofit organization “Scientific and industrial laboratory “Sensor technology &nbsp; for deafblind”, Moscow, Russian Federation 4Research Centre for Medical Genetics, Moscow, Russian Federation 5Institute of Integrative Omics and Applied Biotechnology (IIOAB), Bangalore, India 6Pirogov Russian National Research Medical University, Moscow, Russian Federation 7Non-profit partnership International Scientific and Practical Center for the Proliferation of Tissues of Russia, Moscow, Russian Federation Background: Usher syndrome (USH) is a heterogeneous syndrome characterized by hearing loss and vision loss. The prevalence of USH is estimated to 5:100,000. USH is classified into three subtypes (I, II, and III) depending on the specific gene mutation, i.e., MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2 for type 1; USH2A, ADGRV1, DFNB31 for type 2; and CLRN1 for type 3. USH requires genetic studies to confirm the diagnosis, to manage patients, and to develop pathogenetically oriented treatment approaches. Historical aspects and development of molecular diagnosis of the disease, as well as evolution of approaches to the treatment are discussed. Aim: to study mutational spectrum in a cohort of Russian patients with USH and to analyze metabolome and interactome as well as pathogenic pathways of USH development to discover targeted therapies. Patients and Methods: 28 patients with USH were enrolled in the study and underwent examinations (clinical trial protocol No. NCT03319524 ). Comprehensive eye and ENT examination as well genetic studies were performed. The diagnosis was confirmed by MLPA next-generation sequencing and Sanger sequencing. Results: type 1 USH was diagnosed in 53.57% of patients and type 2 USH in 39.2% of patients. 17.85% were not confirmed genetically being in line with world statistics. Mutations in genes MYO7A (72.72%), CDH23 (9.09%), PCDH15 (9.09%), and USH1C (9.09%) were found in 11 patients. 11 mutations were identified in MYO7A gene, 54.54% were pathogenic mutations described for the first time. MYO7A: p.Q18* was the most common (27.27%) mutation associated with early and the most severe clinical manifestations. Two novel mutations (p.E1301* и c.158-?_318+?del) were identified in PCDH15 gene. In 90% of patients with type 2 USH, the diagnosis was confirmed genetically. 11 mutations were identified in USH2A gene, 27% were pathogenic causative mutations described for the first time. The most common mutations in USH2A were p.W3955* (50%), p.E767fs, p.R1653*, and c.8682–9A&gt;G (20% each). Conclusion: detailed in silico analysis of metabolome and interactome as well as pathogenic pathways of USH development in Russian cohort was performed. The most promising treatment strategies including gene therapy are discussed. Keywords: USH, USH2A, MYO7A, mutation, Usher syndrome, congenital deaf-blindness, gene therapy, interactome, modeling. For citation: Ivanova M.E., Atarshchikov D.S., Demchinsky A.M. et al. The study of interactome in Russian patients with Usher syndrome to select priority approaches in pathogenetically oriented treatment. Russian Journal of Clinical Ophthalmology. 2019;19(4):180–188. <br

Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia))

M.E. Ivanova1, V.V. Kadyshev2, D.S. Atarshchikov3, I.V. Zolnikova4, N.P. Akchurina4, N.K. Serova5, F.A. Konovalov6, E.R. Lozier6, E.A. Pomerantseva7, N.V. Vetrova7, D. Barh8, L.M. Balashova9,&nbsp;J.M. Salmasi10 1 LLC “Oftalmic”, Moscow, Russian Federation 2 Research Centre for Medical Genetics, Moscow, Russian Federation 3 Central Clinical Hospital under Presidential Affairs, Moscow, Russian Federation 4 Moscow Helmholtz Research Institute of Eye Diseases, Moscow, Russian Federation 5 N.N. Burdenko National Medical Research Center of Neurosurgery, Moscow, Russian Federation 6 Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation 7 Center for Genetics and Reproductive Medicine “Genetiko”, Moscow, Russian Federation 8 Institute of Integrative Omics and Applied Biotechnology (IIOAB), Bangalore, India 9 Non-profit partnership International Scientific and Practical Center for the Proliferation of Tissues of Russia, Moscow, Russian Federation 10Pirogov Russian National Research Medical University, Moscow, Russian Federation The article describes the clinical case of optic atrophy due to a homozygous mutation in exon 3 of the C19orf12 gene (chr19: 30193863AACAGCCCCCCG&gt; A, rs515726204), the frequency of which in the ExAC control sample is 0.0074. With this mutation, a frameshift occurs at 69-th position (p.Gly69fs, NM_001031726.3), which usually leads to neurodegeneration with the brain iron accumulation (NBIA), type 4 (OMIM: 614298). In described clinical case the main complaint of patient was visual impairment, with magnetic resonance imaging patient revealed only the expansion of the sellar fossa. The vision of 7-year-old boy decreased significantly for 2 years without any apparent reasons, spectacle correction did not give an improvement in vision to 100%. During the examination partial atrophy of the optic nerves was revealed, consultations were conducted with a neurologist, neurophthalmologist. Hyperreflexia, gait changes, and a slight delay in speech development were also revealed. No other clinical neurological symptoms were observed. The article describes a detailed ophthalmic clinical picture, discusses diagnostic and therapeutic tactics. Keywords: optic nerve atrophy, neurodegeneration with the brain iron accumulation, NBIA, mutation, gene, C19orf12. For citation: Ivanova M.E., Kadyshev V.V., Atarshchikov D.S. et al. Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia)). Russian Journal of Clinical Ophthalmology. 2020;20(1):–36. DOI: 10.32364/2311-7729-2020-20-1-33-36. </p