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Disease Profile

Acute posterior multifocal placoid pigment epitheliopathy

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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Other names (AKA)

Epitheliopathy, acute posterior multifocal placoid pigment; Acute multifocal placoid pigment epitheliopathy; Acute placoid pigment epitheliopathy;

Categories

Eye diseases

Summary

Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved.[1] APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness.[2] Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.[1]

Symptoms

Prior to onset of the condition, about a third of people have flu-like or viral symptoms such as fever, swollen lymph glands, nausea, vomiting, joint pain and/or tenderness. Headaches may also be present. Rarely, there may be neurological signs such as temporary loss of speech (aphasia) and/or weakness of the arms and legs.[1][3]

In the early stages of APMPPE, affected people may notice areas of visual blotchiness; flashes of light (photopsia) caused by irritation of the retina; distortion of shapes (metamorphopsia); increased sensitivity to light (photophobia); and/or conjunctivitis. Later, affected people usually develop impairment of vision. In rare cases, vision impairment may be severe.[1][3]

In most cases, the disorder resolves within a few weeks without permanent loss of visual acuity. However, in some cases, visual acuity does not improve.[3] Neurological symptoms develop in some affected people and should be evaluated and treated promptly, as neurological involvement can result in severe complications.[4][1]

There are rare cases of chronic or recurrent APMPPE; it has been suggested that these cases represent relentless placoid chorioretinitis.[5] This is a rare condition characterized by the development of multiple inflammatory lesions resembling those seen in APMPPE. However, unlike in APMPPE, the lesions continue to expand in size and number, with a relentless course over many months.[6]

Treatment

The treatment of APMPPE is somewhat controversial, but the general consensus is that no treatment seems to alter the course of the ocular lesions. In cases complicated by subretinal neovascularization (growth of new blood vessels), laser photocoagulation may be useful.[1]

In most cases, the lesions resolve spontaneously and no therapy is required. Some clinicians have used corticosteroids (which suppress inflammation) to treat the ocular findings and any severe systemic involvement. However, there is no evidence that treatment with corticosteroids affects the visual outcome.[1] The use of steroids has also been suggested when treating cases where the macula is involved.[7] Cycloplegics may be useful for severe iritis, which is an uncommon finding.[1]

It is recommended that people with questions about treatment options for themselves or family members speak with their health care provider.

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 Acute posterior multifocal placoid pigment epitheliopathy. Their Web site is dedicated to educating people about eye diseases and conditions and the preservation of eye health.
    • 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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Acute posterior multifocal placoid pigment epitheliopathy. Click on the link to view a sample search on this topic.

        References

        1. Lakshmana M Kooragayala. Acute Multifocal Placoid Pigment Epitheliopathy. Medscape Reference. September 16, 2013; https://emedicine.medscape.com/article/1225531-overview. Accessed 9/9/2014.
        2. Epitheliopathy, Acute Posterior Multifocal Placoid Pigment. National Organization for Rare Disorders (NORD). 2003; https://rarediseases.org/rare-diseases/epitheliopathy-acute-posterior-multifocal-placoid-pigment/.
        3. EPITHELIOPATHY, ACUTE POSTERIOR MULTIFOCAL PLACOID PIGMENT. NORD. April 25, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/609/viewAbstract. Accessed 9/9/2014.
        4. O'Halloran HS et. al. Acute multifocal placoid pigment epitheliopathy and central nervous system involvement: nine new cases and a review of the literature. Ophthalmology. May, 2001; 108(5):861-868. Accessed 9/9/2014.
        5. Ramana S. Moorthy. Recognizing the ‘White Dot’ Syndromes. Review of Ophthalmology. June 11, 2009; https://www.revophth.com/content/d/retinal_insider/i/1215/c/22884/. Accessed 9/9/2014.
        6. Lawrence A. Yannuzzi. Relentless Placoid Chorioretinitis (Ampiginous Choroiditis). The Retinal Atlas. Elsevier; 2010;
        7. Grkovic D, Oros A, Bedov T, Karadžic J, Gvozdenovic L, Jovanovic S. Acute posterior multifocal placoid pigment epitheliopathy-retinal "white dot syndrome". Med Glas (Zenica). February, 2013; 10(1):194-196. Accessed 9/9/2014.

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