Rare Hematology News

Disease Profile

Eales disease

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

Adult

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ICD-10

H35.0

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)

Idiopathic obliterative vasculopathy; Idiopathic recurrent vitreal hemorrhage

Categories

Eye diseases

Summary

Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease.[1] Visual prognosis is good if treatment begins early in the course of the disease.[2]

Treatment

Depending on the disease stage, treatment may involve corticosteroids (systemic or periocular) and/or immunosuppressants (azathioprine, cyclosporine).[3][4] Anti-tubercular therapy has been recommended by some authors, however this treatment remains controversial.[3] Bevacizumab (Avastin), a monoclonal antibody, is sometimes used via intravitreal injection. This medication appears to induce regression of neovascularization.[4] Laser photocoagulation has become the treatment of choice in patients in the proliferative stage of Eales disease. Vitreoretinal surgery may be required if recurrent vitreous hemorrhage occurs.[3][4]

There may be other treatment options (for example, antioxidant vitamins A, C, and E) for Eales disease as well.[4] We recommend that you discuss these and other treatment options with your partner's health-care providers.

You can find relevant articles on the treatment of Eales disease through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using 'Eales disease AND treatment' as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search.
https://www.ncbi.nlm.nih.gov/PubMed

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link https://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

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 Eales disease. Click on the link to view a sample search on this topic.

References

  1. Eales Disease. National Organization for Rare Disorders (NORD). 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/859/viewAbstract. Accessed 6/13/2011.
  2. Das T, Pathengay A, Hussain N, Biswas J. Eye (Lond). 2010; https://www.ncbi.nlm.nih.gov/pubmed/20075970. Accessed 6/13/2011.
  3. Eales disease. Orphanet. 2003; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=40923. Accessed 6/13/2011.
  4. Roth DB. Eales Disease. eMedicine. 2010; https://emedicine.medscape.com/article/1225636-overview. Accessed 6/13/2011.

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