Rare Pediatrics News

Disease Profile

Chandler’s 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.

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US Estimated

Europe Estimated

Age of onset

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ICD-10

H21.2

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)

Chandler syndrome

Categories

Eye diseases

Summary

Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome. In most cases, only one eye is affected.[1][2] Symptoms may include reduced vision and pain.[1][2] Chandler's syndrome more often affects females and usually presents sometime during middle age.[1] The cause of this disease is unknown.[2]

Cause

The underlying cause of Chandler's syndrome is unknown. Some researchers suspect that inflammation or chronic viral infection may play a role in the development of this condition.[1] 

Chandler's syndrome develops when the endothelium, the single layer of cells lining the inside of the surface of the cornea, fails to pump the aqueous humor from the cornea. This allows fluid to accumulate in the cornea (corneal edema), leading to blurred vision.[1]

Treatment

While it is not possible to halt the progression of Chandler's syndrome, the glaucoma associated with this disease can be treated with medications and/or filtering surgery.[2][3][4] Eye drops used in managing glaucoma decrease pressure in the eye by helping the eye's fluid drain more efficiently and/or decreasing the amount of fluid made by the eye.[5] Drugs used to treat glaucoma are classified according to their active ingredient. These include prostaglandin analogs, beta blockers, alpha agonists, and carbonic anhydrase inhibitors.[1][5] Combination drugs may be necessary for some patients.[5] If these medications do not successfully treat the glaucoma, surgery may be indicated.[1][5] Trabeculectomy may be used to treat glaucoma.[1][6] In some cases, multiple procedures may be necessary.[6] The corneal swelling associated with Chandler's syndrome may be treated through a cornea transplant.[1][2] Further investigation is needed to determine the best way to manage this condition.[7]

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 Supporting this Disease

    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 Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.
    • 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

      • 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 Chandler's syndrome. Click on the link to view a sample search on this topic.

        References

        1. Shields B, Sears ML. Chandler's Syndrome. National Organization for Rare Disorders (NORD). 2013; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/949/viewAbstract. Accessed 12/31/2014.
        2. Facts About The Cornea and Corneal Disease. National Eye Institute (NEI). May 2013; https://www.nei.nih.gov/health/cornealdisease/. Accessed 12/31/2014.
        3. What is Irido Corneal Endothelial Syndrome (ICE)?. Glaucoma Research Foundation. August 23, 2012; https://www.glaucoma.org/q-a/what-is-irido-corneal-endothelial-syndrome-ice.php. Accessed 12/31/2014.
        4. Denis P. Iridocorneal endothelial syndrome and glaucoma.. J Fr Ophtalmol. 2007; https://www.ncbi.nlm.nih.gov/pubmed/17318107. Accessed 12/31/2014.
        5. Medication Guide. Glaucoma Research Foundation. October 10, 2014; https://www.glaucoma.org/treatment/medication-guide.php. Accessed 12/31/2014.
        6. Doe EA, Budenz DL, Gedde SJ, et al.. Long-term surgical outcomes of patients with glaucoma secondary to the iridocorneal endothelial syndrome.. Ophthalmology. 2001; https://www.ncbi.nlm.nih.gov/pubmed/11581050. Accessed 12/31/2014.
        7. Morris RW, Dunbar MT. Atypical presentation and review of the ICE syndrome.. Optometry. 2004; https://www.ncbi.nlm.nih.gov/pubmed/14717277. Accessed 12/31/2014.

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