Rare Hematology News

Disease Profile

Intraocular melanoma

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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

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ICD-10

C69.3

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)

Melanoma of the Uvea; Uveal melanoma

Categories

Eye diseases; Rare Cancers

Summary

Intraocular melanoma is a cancer of the pigment-producing cells (melanocytes) in the middle layer of the eye, called the uveal tract.[1] The uveal tract has 3 main parts: (1) the choroid (the tissue layer filled with blood vessels); (2) the ciliary body (the ring of muscle tissue that changes the size of the pupil and the shape of the lens); and (3) the iris (the colored part of the eye). Most cases (90%) of intraocular melanoma develop in the choroid, called choroidal melanoma; the ciliary body is less commonly a site of origin, and the iris is the least common. Each manifests with different clinical features and symptoms. [2] Treatment depends on the site of origin (choroid, ciliary body, or iris), size and location of the tumor, the age of the individual, and other factors.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Choroidal melanoma
0012054
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
30%-79% of people have these symptoms
Ciliary body melanoma
0012055
Iris melanoma
0011524
Retinal detachment
Detached retina
0000541
5%-29% of people have these symptoms
Abnormal visual accommodation
0030800
Abnormality of refraction
0000539
Inferior lens subluxation
0008494
Metamorphopsia
0012508
Mydriasis
Dilated pupil
0011499
Ocular hypertension
High eye pressure
0007906
Photopsia
0030786
Vitreous hemorrhage
0007902
Zonular cataract
0010920
1%-4% of people have these symptoms
Inflammatory abnormality of the eye
0100533
Ocular pain
Eye pain
0200026
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Uveal melanoma
0007716

Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

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

    Social Networking Websites

    • The Ocular Melanoma Foundation Patient Forum is an interactive social network for patients, family members and health care providers to interact with one another. Click on the link to read more about this forum.

      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 Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

        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.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • 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 Intraocular melanoma. Click on the link to view a sample search on this topic.

          References

          1. Intraocular (Eye) Melanoma Treatment (PDQ). National Cancer Institute. 06/15/2010; https://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/Patient/page5. Accessed 11/29/2010.
          2. Shields, Carol, M.D., Shields, Jerry, M.D.. Ocular melanoma: relatively rare but requiring respect. Clinics in Dermatology. 2009;
          3. About Ocular Melanoma. Ocular Melanoma Foundation. https://www.ocularmelanoma.org/about-om. Accessed 11/29/2010.