Russian Pediatric OphthalmologyRussian Pediatric Ophthalmology1993-18592412-432XEco-Vector3758310.17816/rpoj37583Research ArticleCOFFIN-SIRIS SYNDROME (CASE REPORT)Zol’nikovaInna Vladimirovnainnzolnikova@hotmail.comSubbotaMarija Imamalievna-AkhadovaLejla Jadullaevna-RogulinaOl'ga Nikolaevna-EgorovaIrina Viktorovna-RogatinaElena Vasil'evna-RogovaSvetlana Jur'evna-GolosnayaGalina Stanislavovna-Moscow Helmholtz Research Institute of Eye Diseases Ministry of Health of the Russian FederationResearch and Clinical Centre of Pediatric Psychoneurology Moscow Health DdepafrtmentN. I. Pirogov Russian State Medical University1506201382606321072020Copyright © 2013, Eco-Vector2013Coffin-Siris syndrome is a very rare hereditary disease (OMIM, 135900) that was described for the first time by G. Coffin and E. Siris in 1970. Only 50 reports of this condition have thus far been published in the medical literature. The authors report a case of clinically confirmed Coffin-Siris syndrome in a boy aged 3 years and 4 months with the results of ophthalmological, neurological, orthopedic, and cardiological examination as well as the data of the instrumental studies including computed tomography and evaluation of visual evoked potentials. It is argued that Coffin-Siris syndrome involves multiple systemic pathology. The clinical manifestations of the disturbed visual function include megalocornea and partial atrophy of optic nerve confirmed by VEP.Coffin-Sirin syndromeelectrophysiologyvisual evoked potentialspartial optic nerve atrophyoptical neuropathymegalocorneaX-ray studiesgenetic testsКоффина—Сириса синдромэлектрофизиологияпотенциалы зрительные вызванныеатрофия зрительного нерва частичнаяоптическая нейропатиямегалокорнеагенетические тесты[Baban A., Moresco L., Divizia M.T., Rossi A., Ravazzolo R., Lerone M., De Toni T. Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome. Am. J. Med. Genet. A. 2008; 146 (3): 384—8.][Bender H.A., Zaroff C.M., Karantzoulis S., Nakhutina L., MacAllister W.S., Luciano D. Cognitive and behavioral functioning in CSS and epilepsy: a case presentation. J. Genet. Psychol. 2011; 172 (1): 56—6.][Coffin G.S., Siris E. Coffin-Siris syndrome. Am. J. Dis. Child. 1985; 139 (1): 12.][Хлебникова О.В. Наследственная патология органа зрения в популяциях с различной генетической структурой: Дисс. М.; 1998.][Киреева О.Л. Клинико-эпидемиологические особенности распространения наследственной офтальмольмопатологии в Ростовской области: Дисс. М.; 2012.][http://www.ncbi.nlm.nih.gov/OMIM - электронный вариант каталога McKusick V.A. наследственных заболеваний и признаков.][Elliot A.M., Teebi A.S. New Autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. Clin Dysmorphol. 2000; 9 (1): 15—9.][Fornet I., Morillas P., Lopez M.A., Palacio F.G., Aquilar J.M., Mesa J.L. Emergency cesarean in a patient with Coffin-Siris syndrome. Rev. Esp. Anestesiol. Reanim. 2007; 54 (9): 563—5.][Pallota R. Ocular anomalies in CSS. Ophthalm. Paediatr. Genet. 1985; 6 (1—2): 349—52.]