Enhanced S-cone syndrome (clinical case)



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Abstract

A case of enhanced S-cone syndrome misdiagnosed as idiopathic retinal vasculitis is presented. Etiology, pathogenesis and clinical features are described below.

About the authors

Natalia A. Skvortsova

Posterior Eye Segment Diagnostics and Surgery Center

Author for correspondence.
Email: nat.skvortsova@gmail.com
ORCID iD: 0000-0001-7488-4564

Ophthalmologist

Russian Federation, 111123, Moscow, Russian Federation, 2nd Vladimirskaya str., 2

Inna Vladimirovna Zolnikova

FGBU «Helmholtz Moscow research institute of eye diseases» of Ministry of health of Russian Federation

Email: innzolnikova@hotmail.com

PhD, Senior research fellow of the department of clinical electrophysiology of vision named after S.V.Kravkov of FGBU «Helmholtz Moscow research institute of eye diseases» of Ministry of health of Russian Federation

Russian Federation, Sadovaya-Chernogriazskaya street, 14/19, Moscow, Russian Federation,105062

Marianna E. Ivanova

Oftalmic genetic testing and CRO company

Email: info@oftalmic.ru

PhD

CEO

Russian Federation, 125167, Moscow, Russian Federation, Leningradskiy avenue, 47, bld 3

Yulia A. Skvortsova

State Outpatient Clinic №68, Moscow

Email: gp.skvortsova.yulia@gmail.com

General practioner

Russian Federation, 119034, Moscow, Russian Federation, 1st Zachatyevsky lane, 1/15

References

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  2. 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.
  3. 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.
  4. 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.
  5. 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.
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  8. 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.
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  12. Özateş S, Tekin K, Teke MY. Goldmann-Favre Syndrome: Case Series. Turk J Ophthalmol. 2018;48(1):47-51. doi: 10.4274/tjo.76158.
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  14. 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.

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Copyright (c) Skvortsova N.A., Zolnikova I.V., Ivanova M.E., Skvortsova Y.A.

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