Rare Hematology News

Disease Profile

Serpiginous choroiditis

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.

Unknown

Age of onset

-

ICD-10

H30.8

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)

Geographic choroiditis; Geographic helicoid peripapillary choroidopathy (GHPC); Geographic serpiginous choroiditis;

Categories

Eye diseases

Summary

Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years.[1] Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue.[2] Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in one or both eyes when the macula is involved. [3] Treatment options involve anti-inflammatory and immune-suppressing medications.[1][3]

Cause

The cause of serpiginous choroiditis is unknown.[3][4] Speculation exists regarding an association with exposure to various toxic compounds and/or infectious agents.[3][5] Some researchers believe the condition is related to an organ-specific autoimmune inflammatory process.[6]

Treatment

There are a few treatment options for individuals with serpiginous choroiditis.[1][2][3] Treatment may involve an anti-inflammatory medication, such as prednisone, or an immune system suppressing combination of prednisone, cyclosporine, and azathioprine. Additionally, the role of cyclosporine alone has been investigated. These treatments may be administered for a long period of time to prevent recurrences. A serious complication of serpiginous choroiditis is choroidal neovascularization. Laser photocoagulation or surgery may be helpful in some of these cases.[3]

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 National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
  • 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 Serpiginous choroiditis. Click on the link to view a sample search on this topic.

References

  1. Serpiginous choroiditis. Digital Reference of Ophthalmology. https://dro.hs.columbia.edu/serpiginous.htm. Accessed 9/16/2013.
  2. Da Mata AP. Serpiginous Choroiditis. Ocular Immunology and Uveitis Foundation. February 1998; https://www.uveitis.org/docs/dm/serpiginous_chroiditis.pdf. Accessed 9/16/2013.
  3. Tewari A, Eliott D. White Dot Syndromes. Medscape Reference. December 10, 2013; https://emedicine.medscape.com/article/1227778-overview. Accessed 12/8/2014.
  4. Choroiditis, Serpiginous. National Organization for Rare Disorders (NORD). 2003; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1011/viewAbstract. Accessed 12/8/2014.
  5. Gupta A, Biswas J. Serpiginous choroiditis and acute retinal necrosis occurring in the same patient. Indian J Ophthalmol. 2003; 61(6):303–304. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744787/. Accessed 12/8/2014.
  6. Khanamiri N, Rao NA. Serpiginous choroiditis and infectious multifocal serpiginoid choroiditis. Surv Ophthalmol. 2013; 58(3):203-32. https://www.ncbi.nlm.nih.gov/pubmed/23541041. Accessed 12/8/2014.

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