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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
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 the severe form of 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]Treatment may include laser photocoagulation and medication, such as acetazolamide, dorzolamide and cyclosporin A.[3][4] 
Last updated: 5/19/2016

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 Sept; 121(9):1316-23. http://www.ncbi.nlm.nih.gov/pubmed/12963616.
  2. NR2E3. Genetics Home Reference. January 2016; http://ghr.nlm.nih.gov/gene/NR2E3.
  3. Bušic M, Bjeloš M, Bosnar D, Ramic S & Bušic I. Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. Doc Ophthalmol. February, 2016; 132(1):67-73.
  4. Salvatore S, Fishman GA & Genead MA. Treatment of cystic macular lesions in hereditary retinal dystrophies. Surv Ophthalmol. November-December, 2013; 58(6):560-84.
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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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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
  • 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.