Enhanced s-cone syndrome

Common Name(s)

Enhanced s-cone syndrome

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Enhanced s-cone syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Enhanced s-cone syndrome" returned 14 free, full-text research articles on human participants. First 3 results:

Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.
 

Author(s): Désirée von Alpen, Hoai Viet Tran, Nicolas Guex, Giulia Venturini, Francis L Munier, Daniel F Schorderet, Neena B Haider, Pascal Escher

Journal: Hum. Mutat.. 2015 Jun;36(6):599-610.

 

NR2E3 encodes the photoreceptor-specific nuclear hormone receptor that acts as a repressor of cone-specific gene expression in rod photoreceptors, and as an activator of several rod-specific genes. Recessive variants located in the ligand-binding domain (LBD) of NR2E3 cause enhanced ...

Last Updated: 20 May 2015

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Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome.
 

Author(s): Rony Gelman, Jonathan P Greenberg, Tobias Duncker, Huy V Nguyen, Lawrence A Yannuzzi, Stephen H Tsang

Journal: Ophthalmic Surg Lasers Imaging Retina. ;45(6):592-5.

 

The authors describe fundus autofluorescence (AF) and spectral-domain optical coherence tomography (SD-OCT) findings in three patients with enhanced S-cone syndrome and their correlation around the hyperautofluorescent ring border. Patients had AF imaging in combination with SD-OCT ...

Last Updated: 26 Nov 2014

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Expanded clinical spectrum of enhanced S-cone syndrome.
 

Author(s): Suzanne Yzer, Irene Barbazetto, Rando Allikmets, Mary J van Schooneveld, Arthur Bergen, Stephen H Tsang, Samuel G Jacobson, Lawrence A Yannuzzi

Journal: JAMA Ophthalmol. 2013 Oct;131(10):1324-30.

 

New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy.

Last Updated: 11 Oct 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Enhanced s-cone syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 21 Mar 2016

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Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)
 

Status: Recruiting

Condition Summary: Inherited Ophthalmic Diseases; Inherited Retinal Degeneration

 

Last Updated: 31 Aug 2016

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