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Diseases

Genetic and Rare Diseases Information Center (GARD)

Goldmann-Favre syndrome


Other Names for this Disease
  • Enhanced S-cone syndrome
  • Retinoschisis with early hemeralopia
  • Favre hyaloideoretinal degeneration
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Tests & Diagnosis

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How is Goldmann-Favre syndrome diagnosed?

Goldmann-Favre syndrome may be suspected following ophthalmoscopy examination. Ophthalmoscopy, also known as funduscopy, allows the doctor to look at the back part of the eye (fundus), which includes the retina, optic disc, choroid, and blood vessels. The architecture of the retina in people with Goldmann-Favre syndrome differs remarkably from normal at all disease stages.[1] Examples of Goldmann-Favre syndrome retinal abnormalities that can be demonstrated by opthalmoscopy include clumps of pigment and atrophic lesions.[1]

Other tests that may be used in diagnosing Goldmann-Favre syndrome include optical coherence tomography, electroretinograms, and genetic tests. Optical coherence tomography produces specialized photos that show the layers of the retina in cross section. In people with Goldmann-Favre syndrome, optical coherence tomography shows increased retinal thickening.[1] Electroretinograms measure the activity of the cells in the retina. In Goldmann-Favre syndrome electroretinograms may demonstrate no or diminished activity in these cells.[2] Genetic testing to search for disease causing mutations in the NR2E3 gene may be used to confirm a suspected diagnosis. 
Last updated: 5/16/2011

References
  1. Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration . Hum Mol Genet. 2004 Sep 1; http://hmg.oxfordjournals.org/content/13/17/1893.long. Accessed 5/13/2011.
  2. Enhanced S-cone syndrome. Online Mendelian Inheritance in Man. December 1, 2008; http://www.ncbi.nlm.nih.gov/omim/268100. Accessed 5/13/2011.


Other Names for this Disease
  • Enhanced S-cone syndrome
  • Retinoschisis with early hemeralopia
  • Favre hyaloideoretinal degeneration
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.