Goldmann-Favre syndrome

Common Name(s)

Goldmann-Favre syndrome

Goldmann-Favre syndrome, also known as enhanced S cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (retina). Within the retina are "red," "blue," and "green" cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. As a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration. Goldmann-Favre syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Goldmann-Favre syndrome" for support, advocacy or research.

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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 "Goldmann-Favre syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
 

Author(s): George J Manayath, Prasanthi Namburi, Sundaresan Periasamy, Jeevan A Kale, Venkatapathy Narendran, Anuradha Ganesh

Journal:

 

Various autosomal recessive retinal dystrophies are reported to be associated with mutations in nuclear receptor subfamily 2, group E, member 3 (NR2E3, also called PNR) gene. The present study proposed to understand the clinical and genetic characteristics of the family of a patient ...

Last Updated: 31 Dec 1969

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Morphological and functional correlates in Goldmann-Favre syndrome: a case series.
 

Author(s): Madhavendra Bhandari, Rajni Rajan, P Tandava Krishnan, Swakshyar Saumya Pal, Rajiv Raman, Tarun Sharma

Journal: Korean J Ophthalmol. 2012 Apr;26(2):143-6.

 

The purpose of this study is to describe the correlation of findings between results from spectral domain optical coherence tomography (SD-OCT) and microperimetry in a case series regarding patients with Goldmann-Favre syndrome. Goldmann-Favre syndrome is a rare autosomal recessive ...

Last Updated: 31 Dec 1969

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Retinal pathology of a patient with Goldmann-Favre syndrome.
 

Author(s): Vera L Bonilha, Gerald A Fishman, Mary E Rayborn, Joe G Hollyfield

Journal: Ophthalmic Genet.. 2009 Dec;30(4):172-80.

 

To define the retinal pathology in an 88-year-old male affected with Goldmann-Favre syndrome with a 2 bp 5' A>C splice site mutation in the NR2E3 gene.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Goldmann-Favre 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: 13 Sep 2017

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