Ophthalmology ReportsOphthalmology Reports1998-71022412-5423Eco-Vector1112810.17816/OV11493-98Research ArticleEnhanced S-cone syndrome (clinical case)SkvortsovaNatalia A.<p>MD, Ophthalmologist</p>nat.skvortsova@gmail.comZolnikovaInna V.<p>Senior Scientific Researcher. SV Kravkov Department of the Clinical Physiology of the Vision</p>innzolnikova@hotmail.comIvanovaMarianna E.<p>PhD, Head of the Company</p>info@oftalmic.ruSkvortsovaYulia A.<p>MD, General Practitioner</p>gp.skvortsova.yulia@gmail.comPosterior Eye Segment Diagnostics and Surgery CenterHelmholtz Moscow Research Institute of Eye Diseases of Ministry of Health of Russian FederationOftalmic Genetic Testing and CRO CompanyState Outpatient Clinic No. 6815122018114939820022019Copyright © 2018, Skvortsova N.A., Zolnikova I.V., Ivanova M.E., Skvortsova Y.A.2018<p>A case of enhanced S-cone syndrome misdiagnosed as idiopathic retinal vasculitis is presented. Etiology, pathogenesis and clinical features are described below.</p>enhanced S-cone syndromeNR2E3 mutationGoldmann-Favre syndromeretinal vasculitisсиндром усиленного ответа S-колбочекмутация NR2E3синдром Гольдмана - Фавреретинальный васкулит[Jacobson SG, Marmor MF, Kemp CM, et al. SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci. 1990(5);31:827-838.][Audo I, Michaelides M, Robson AG, et al. Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci. 2008;49(5):2082-93. doi: 10.1167/iovs.05-1629.][Marmor MF, Jacobson SG, Foerster MH, et al. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol. 1990;110(2):124-134. doi: 10.1016/s0002-9394(14)76980-6.][Haider NB, Jacobson SG, Cidecyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000;24(2):127-31. doi: 10.1038/72777.][Newman H, Blumen SC, Braverman I, et al. Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome. Invest Ophthalmol Vis Sci. 2016;57(13):5361-5371. doi: 10.1167/iovs.16-19505.][Littink K, Stappers P, Riemslag F, et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes (Basel). 2018;30;9(2). pii: E68. doi: 10.3390/genes9020068.][Yzer S, Barbazetto I, Allikmets R, et al. Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol. 2013;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349.][Gelman R, Greenberg JP, Duncker T, et al. Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. Ophthalmic Surg Lasers Imaging Retina. 2014;45(6):592-5. doi: 10.3928/23258160-20141118-17.][Schorderet DF, Escher P. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat. 2009;30(11):1475-1485. doi: 10.1002/humu.21096.][Nakamura M, Hotta Y, Piao C-H, et al. Enhanced S-cone syndrome with subfoveal neovascularization. Am J Ophthalmol. 2002;133(4):575-577. doi: 10.1016/s0002-9394(01)01428-3.][Fishman GA, Jampol LM, Goldberg MF. Diagnostic features of the Favre-Goldmann syndrome. Br J Ophthalmol. 1976;60(5):345-53. doi: 10.1136/bjo.60.5.345.][Özateş S, Tekin K, Teke MY. Goldmann-Favre Syndrome: Case Series. Turk J Ophthalmol. 2018;48(1):47-51. doi: 10.4274/tjo.76158.][Bonilha VL, Fishman GA, Rayborn ME, Hollyfield JG. Retinal pathology of a patient with Goldmann-Favre Syndrome. Ophthalmic Genet. 2009;30(4):172-180. doi:10.3109/ 13816810903176765.][Jacobson SG, Roman AJ, Roman MI, et al. Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol. 1991;111(4):446-453. doi: 10.1016/s0002-9394(14)72379-7.]