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Goldmann-Favre Syndrome (GFS)

What is Goldmann-Favre Syndrome (GFS)?

Goldmann-Favre syndrome (GFS), also known as the enhanced S-cone (or blue-cone) syndrome is an inherited eye disease that affects the retina.

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.

What are the symptoms of Goldmann-Favre Syndrome (GFS)?

  • Reduced vision in very bright light
  • Variable degrees of central vision loss
  • Astigmatism
  • Retinoschisis
  • Cystoid macular edema.

What causes Goldmann-Favre Syndrome (GFS)?

Goldmann-Favre syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion.

How is Goldmann-Favre Syndrome (GFS) diagnosed?

GFS may be suspected following ophthalmoscopy examination. Ophthalmoscopy allows the doctor to look at the back part of the eye, which includes the retina, optic disc, choroid, and blood vessels.

Other tests used to diagnose GFS include:

  • Optical coherence tomography
  • Electroretinograms
  • Genetic tests

What are the treatments for Goldmann-Favre Syndrome (GFS)?

While treatment options for complications such as retinoschisis and cystoid macular edema may be recommended, currently there is not a cure or specific targeted treatment for Goldmann Favre syndrome.

Where can I find out more about Goldmann-Favre Syndrome (GFS)?

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