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Disease Profile

Multifocal 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.

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Age of onset

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ICD-10

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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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Summary

Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort.[1] Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes.[2] MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.[3]

Symptoms

Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light.[3] Clinical examination by an ophthalmologist reveals inflammation in the front, middle and/or back layers of the eye with multiple scattered yellow/gray-white spots in the choroid and retina. A subset of people with this condition also develop choroidal neovascular membranes (CNVMs), new blood vessels that can cause more severe vision loss.[1]

Cause

Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area.[2][1]

Diagnosis

Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as fluorescent spots. Vision tests may also show an enlarged blind spot or a decrease in visual clarity. Often, doctors may order blood tests to check if the symptoms are caused by a viral disease rather than MFC.[4]

Treatment

Multifocal choroiditis (MFC) is generally treated with steroid medication that can be taken orally or injected into the affected eye. These treatments may be successful in managing symptoms, though there is no permanent cure for the disease and symptoms may return. If a person no longer responds to steroid treatment, drugs that suppress the immune system, such as cyclosporine, may be recommended.[1] People with more severe vision loss may also benefit from laser therapy.[2] Frequent monitoring by an ophthalmologist is recommended to determine how well treatment is working.

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.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Multifocal choroiditis. Click on the link to view a sample search on this topic.

References

  1. Stephen Foster. Multifocal Choroiditis and Panuveities (MCOP): Case Report. The Ocular Immunology and Uveitis Foundation. https://www.uveitis.org/multifocal-choroiditis-and-panuveitis. Accessed 3/7/2016.
  2. Courtney M Crawford and Okezie Igboeli. A Review of the Inflammatory Chorioretinopathies: The White Dot Syndromes. International Scholarly Research Notices. May, 2013; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833360/.
  3. Sam E Mansour and Gary R Cook. Multifocal Choroidopathy Syndromes. Medscape. October 5, 2015; https://emedicine.medscape.com/article/1190935-overview#a2.
  4. American Academy of Ophthalmology. Multifocal Choroiditis and Panuveitis. Focal Points. https://www.aao.org/focalpointssnippetdetail.aspx?id=343dae27-6e6b-45f8-8eca-f5c72077fb1e.

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