Enhanced s-cone syndrome

Common Name(s)

Enhanced s-cone syndrome

Description for this condition is not yet available.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 12 free, full-text research articles on human participants. First 3 results:

Topical dorzolamide treatment of macular cysts in the enhanced S-cone syndrome patient.
 

Author(s): Marta Kiszkielis, Wojciech LubiƄski, Krzysztof Penkala

Journal: Doc Ophthalmol. 2013 Jun;126(3):241-6.

 

The purpose of the study was to evaluate the efficacy of a topical form of a carbonic anhydrase inhibitor (dorzolamide) on the foveal function and thickness in the eye of a patient with enhanced S-cone syndrome (ESCS) associated with macular cysts.

Last Updated: 28 May 2013

Go To URL
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration.
 

Author(s): Debarshi Mustafi, Brian M Kevany, Christel Genoud, Kiichiro Okano, Artur V Cideciyan, Alexander Sumaroka, Alejandro J Roman, Samuel G Jacobson, Andreas Engel, Mark D Adams, Krzysztof Palczewski

Journal: FASEB J.. 2011 Sep;25(9):3157-76.

 

Enhanced S-cone syndrome (ESCS), featuring an excess number of S cones, manifests as a progressive retinal degeneration that leads to blindness. Here, through optical imaging, we identified an abnormal interface between photoreceptors and the retinal pigment epithelium (RPE) in 9 ...

Last Updated: 1 Sep 2011

Go To URL
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
 

Author(s): Nitin Udar, Kent Small, Meenal Chalukya, Rosamaria Silva-Garcia, Michael Marmor

Journal:

 

Enhanced S Cone Syndrome is a rare autosomal recessive disorder characterized clinically by an absence of rod function, a replacement of most L and M cone function by S cone activity (Goldmann-Favre Syndrome) and by variable degrees of retinal degeneration in different families. The ...

Last Updated: 2 Mar 2011

Go To URL

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.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.