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Genetic and Rare Diseases Information Center (GARD)

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Goldmann-Favre syndrome


Other Names for this Disease

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

Overview

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.[1] 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.[2] Goldmann-Favre syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion.[2]
Last updated: 5/18/2011

References

  1. Sharon D, Sandberg M, Caruso R, Berson EL, Dryja TP. Shared Mutations in NR2E3 in Enhanced S-cone Syndrome, Goldmann-Favre Syndrome, and Many Cases of Clumped Pigmentary Retinal Degeneration. Arch Ophthalmol. 2003; http://www.hadassah-med.com/NR/rdonlyres/1C83C31A-C737-4510-B01C-3E1D25D7B2D9/11199/SharonArchives2003.pdf. Accessed 5/13/2011.
  2. NR2E3. Genetics Home Reference. http://ghr.nlm.nih.gov/gene/NR2E3. Accessed 5/13/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Goldmann-Favre syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The University of Washington's Neuroscience for Kids Web site has a resource page on the Retina which explains how our rods and cones work. Click on the University of Washington to view the page.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Goldmann-Favre syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

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