Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Enhanced S-cone syndrome; Retinoschisis with early hemeralopia; Favre hyaloideoretinal degeneration
Congenital and Genetic Diseases; Eye diseases
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
Clouding of the lens of the eye
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Poor night vision
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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. Electroretinograms measure the activity of the
Laser photocoagulation may benefit macular retinoschisis maybe because it results in the debridement of diseased retinal pigment epithelial (RPE)
Some improvement of visual acuity has been reported after treatments with cyclosporin A and bromocriptine. Acetazolamide, 125 mg twice daily and topical 2% dorzolamide have also worked for some patients with macular edema.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
GFS should be distinguished from X-linked retinoschisis, retinitis pigmentosa and autosomal dominant hyaloideoretinal degeneration (Wagner disease) (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
National Alliance for Eye and Vision Research (NAEVR)
5515 Security Lane
Rockville, MD 20852
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- 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.
- 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.
- 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.
- 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. https://www.ncbi.nlm.nih.gov/pubmed/12963616.
- NR2E3. Genetics Home Reference. January 2016; https://ghr.nlm.nih.gov/gene/NR2E3.
- 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. https://www.ncbi.nlm.nih.gov/pubmed/?term=26803827.
- Salvatore S, Fishman GA & Genead MA. Treatment of cystic macular lesions in hereditary retinal dystrophies. Surv Ophthalmol. November-December, 2013; 58(6):560-84. https://www.ncbi.nlm.nih.gov/pubmed/?term=24160730.
- 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; https://hmg.oxfordjournals.org/content/13/17/1893.long.
- Enhanced S-cone syndrome. Online Mendelian Inheritance in Man. 2016; https://www.ncbi.nlm.nih.gov/omim/268100.
- Sustar M, Perovšek D, Cima I, Stirn-Kranjc B, Hawlina M & Brecelj J. Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. Doc Ophthalmol. June, 2015; 130(3):165-77. https://www.ncbi.nlm.nih.gov/pubmed/?term=25663266.
- 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; https://www.iovs.org/content/49/5/2082.long.
- 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.; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677970/?tool=pubmed. Accessed 5/16/2011.
- Goldmann-Favre syndrome. Orphanet. 2009; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10723.
- Sato T, Kuniyoshi K, Nakao A, Shimomura Y, Tomemori R. Long-term observation of two cases of enhanced S-cone syndrome. Nippon Ganka Gakkai Zasshi. 2009 Oct;113(10):980-90; https://www.ncbi.nlm.nih.gov/pubmed/19882934.
- Khan AO, Aldahmesh M & Meyer B. The enhanced S-cone syndrome in children. Br J Ophthalmol. March, 2007; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1857689/?tool=pubmed.
- 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; https://archopht.ama-assn.org/cgi/content/full/127/1/71.