Rare Neurology News

Disease Profile

Goldmann-Favre syndrome

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

ICD-10

H35.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Enhanced S-cone syndrome; Retinoschisis with early hemeralopia; Favre hyaloideoretinal degeneration

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

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] 

Symptoms

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
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Edema
Fluid retention
Water retention

[ more ]

0000969
Hemeralopia
Day blindness
0012047
Macular edema
0040049
Nyctalopia
Night blindness
Night-blindness
Poor night vision

[ more ]

0000662
Pigmentary retinopathy
0000580
Retinoschisis
0030502
Undetectable electroretinogram
0000550
Vitreoretinopathy
0007773

Diagnosis

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.[5] Examples of Goldmann-Favre syndrome retinal abnormalities that can be demonstrated by opthalmoscopy include clumps of pigment and atrophic lesions.[5]

Other tests that may be used in diagnosing Goldmann-Favre syndrome include optical coherence tomographyelectroretinograms, 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.[5] Electroretinograms measure the activity of the cells in the retina. In Goldmann-Favre syndrome, electroretinograms may demonstrate no or diminished activity in these cells.[6][7] Genetic testing to search for disease causing mutations in the NR2E3 gene may be used to confirm a suspected diagnosis.[6]

Treatment

While treatment options for complications such as, retinoschisis and cystoid macular edema may be recommended, currently there is not a cure or specific targeted treatment for Goldmann Favre syndrome.[8][9]

Laser photocoagulation may benefit macular retinoschisis maybe because it results in the debridement of diseased retinal pigment epithelial (RPE) cells and replacement by new cells decreasing the fluid within the macular cysts that could form in the disease.[4]

Some improvement of visual acuity has been reported after treatments with cyclosporin A and bromocriptine.[10] Acetazolamide, 125 mg twice daily and topical 2% dorzolamide have also worked for some patients with macular edema.[3][4]

Organizations

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.

Organizations Providing General Support

    Learn more

    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.

    Where to Start

    • 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

          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. https://www.ncbi.nlm.nih.gov/pubmed/12963616.
          2. NR2E3. Genetics Home Reference. January 2016; https://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. https://www.ncbi.nlm.nih.gov/pubmed/?term=26803827.
          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. https://www.ncbi.nlm.nih.gov/pubmed/?term=24160730.
          5. 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.
          6. Enhanced S-cone syndrome. Online Mendelian Inheritance in Man. 2016; https://www.ncbi.nlm.nih.gov/omim/268100.
          7. 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.
          8. 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.
          9. 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.
          10. Goldmann-Favre syndrome. Orphanet. 2009; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10723.
          11. 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.
          12. 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.
          13. 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.

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