Rare Pulmonology News

Disease Profile

Pigment-dispersion 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.

Unknown

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

Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases.[1] Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma.[2][3] While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women.[1] Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals.[2] The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance . At least one gene locus on chromosome 7 has been identified.[2][3] Pigment-dispersion syndrome can be treated with eye drops or other medications.[1][3] In some cases, laser surgery may be performed.[1]

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 American Academy of Ophthalmology Web site has an information page on Pigment-dispersion syndrome. Their Web site is dedicated to educating people about eye diseases and conditions and the preservation of eye health.
    • The Glaucoma Research Foundation Web site has information on Pigment-dispersion syndrome. This group is dedicated to finding a cure for glaucoma.

      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.

        References

        1. Pigment Dispersion Syndrome and Pigmentary Glaucoma. Glaucoma Research Foundation. March 25, 2013; https://www.glaucoma.org/glaucoma/pigment-dispersion-syndrome-and-pigmentary-glaucoma.php. Accessed 5/16/2015.
        2. Barkana Y. Pigmentary Glaucoma. Medscape Reference. October 13, 2014; https://emedicine.medscape.com/article/1205833-overview. Accessed 5/16/2015.
        3. Aref AA, Callahan CE, Scott IU. Dx and Tx of Pigment Dispersion Syndrome and Pigmentary Glaucoma. American Academy of Ophthalmology. https://www.aao.org/eyenet/article/dx-tx-of-pigment-dispersion-syndrome-pigmentary-gl?january-2009. Accessed 5/16/2015.