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Other Names for this Disease
- Enhanced S-cone syndrome
- Favre hyaloideoretinal degeneration
- Retinoschisis with early hemeralopia
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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.Goldmann-Favre syndrome, also known as enhanced S cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (
Last updated: 5/18/2011
- 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.
- NR2E3. Genetics Home Reference. http://ghr.nlm.nih.gov/gene/NR2E3. Accessed 5/13/2011.
- 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
- 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;121:1316-1323.
- Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA. Phenotypic features of patients with NR2E3 mutations. Arch Ophthalmol. 2009 Jan;127(1):71-5.
- Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE. Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci. 2008 May;49(5):2082-93.
- Iannaccone A, Fung KH, Eyestone ME, Stone EM. Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. Am J Ophthalmol. 2009 Feb;147(2):307-312.e2. Epub 2008 Oct 4.
- Khan AO, Aldahmesh M, Meyer B. The enhanced S-cone syndrome in children. Br J Ophthalmol. 2007 Mar;91(3):394-6.
- 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;13(17):1893-902. Epub 2004 Jun 30.