Enhanced S-cone syndrome (clinical case)

Natalia A. Skvortsova; Скворцова Наталия Андреевна; Inna V. Zolnikova; Зольникова Инна Владимировна; Marianna E. Ivanova; Иванова Марианна Евгеньевна; Yulia A. Skvortsova; Скворцова Юлия Андреевна

doi:10.17816/OV11493-98

Enhanced S-cone syndrome (clinical case)

Authors: Skvortsova N.A.¹, Zolnikova I.V.², Ivanova M.E.³, Skvortsova Y.A.⁴
Affiliations:
1. Posterior Eye Segment Diagnostics and Surgery Center
2. Helmholtz Moscow Research Institute of Eye Diseases of Ministry of Health of Russian Federation
3. Oftalmic Genetic Testing and CRO Company
4. State Outpatient Clinic No. 68
Issue: Vol 11, No 4 (2018)
Pages: 93-98
Section: Articles
URL: https://journals.rcsi.science/ov/article/view/11128
DOI: https://doi.org/10.17816/OV11493-98
ID: 11128

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Abstract
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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.

Keywords

enhanced S-cone syndrome, NR2E3 mutation, Goldmann-Favre syndrome, retinal vasculitis

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About the authors

Natalia A. Skvortsova

Posterior Eye Segment Diagnostics and Surgery Center

Author for correspondence.
Email: nat.skvortsova@gmail.com

MD, Ophthalmologist

Russian Federation, Moscow

Inna V. Zolnikova

Helmholtz Moscow Research Institute of Eye Diseases of Ministry of Health of Russian Federation

Email: innzolnikova@hotmail.com

Senior Scientific Researcher. SV Kravkov Department of the Clinical Physiology of the Vision

Russian Federation, Moscow

Marianna E. Ivanova

Oftalmic Genetic Testing and CRO Company

Email: info@oftalmic.ru

PhD, Head of the Company

Russian Federation, Moscow

Yulia A. Skvortsova

State Outpatient Clinic No. 68

Email: gp.skvortsova.yulia@gmail.com

MD, General Practitioner

Russian Federation, Moscow

References

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