Rare Hematology News

Disease Profile

Melanoma-associated retinopathy

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

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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

Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision. Signs and symptoms of MAR may include night blindness; photopsia (presence of perceived flashes of light); and progressive, painless vision loss. MAR occurs when the body's immune system, in response to melanoma, mistakenly attacks the cells of the retina; however, it is poorly understood why this autoimmune response occurs in some people but not others. There is, unfortunately, no established treatment for MAR. Proposed strategies for treatment include immunosuppressive medications and/or standard treatment of the melanoma (i.e. surgery, chemotherapy, and/or radiation therapy).[1][2][3]

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

    Organizations Providing General Support

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

        References

        1. Raj K Maturi, MD. Cancer Associated and Related Autoimmune Retinopathies. Medscape Reference. March 2014; https://emedicine.medscape.com/article/1227724-overview#a1.
        2. Dabir S, Mangalesh S, Govindraj I, Mallipatna A, Battu R, Shetty R. Melanoma associated retinopathy: A new dimension using adaptive optics. Oman J Ophthalmol. May-Aug 2015; 8(2):125-127.
        3. Audemard A, de Raucourt S, Miocque S, Comoz F, Giraud JM, Dreno B, Bienvenu B, Rogerie MJ, Dompmartin A. Melanoma-associated retinopathy treated with ipilimumab therapy. Dermatology. 2013; 227(2):146-149.