Rare Pediatrics News

Disease Profile

Punctate inner choroidopathy

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)

PIC; Punctate inner choroiditis; Multifocal inner choroiditis

Categories

Eye diseases

Summary

Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid (vascular layer) of the eye. It most commonly occurs in young, near-sighted (myopic) women. The symptoms and severity may vary from person to person. Symptoms may include a blind spot (scotomata), blurred vision, photopsia (perceived flashes of light), floaters, light sensitivity (photophobia), distorted vision, and/or loss of peripheral vision. The majority of cases are self-limited (resolving on their own) with good visual prognosis, but permanent, severe visual loss can occur as a result of inflammation and complications such as growth of additional blood vessels (neovascularization) and scarring.[1][2]

The exact cause of PIC is not known, but it is thought to involve both genetic predisposition and environmental factors. It is proposed to be an autoimmune disease in which multiple genes interact with each other and an environmental "trigger" (such as an infection or stress) to cause a person to develop PIC.[1][2]

Treatment is challenging and depends on the course of the disease and whether complications arise. The majority of people with PIC who do not have neovascularization do not require treatment. For those who develop complications or have a more severe disease course, treatment may involve local or systemic corticosteroids, other immunosuppressive therapiesintravitreal anti-VEGF therapy, laser photocoagulation, photodynamic therapy, and/or surgery.[1][2]

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 Providing General Support

    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

    • PubMed is a searchable database of medical literature and lists journal articles that discuss Punctate inner choroidopathy. Click on the link to view a sample search on this topic.

      References

      1. Amer R, Lois N. Punctate inner choroidopathy. Survey of Ophthalmology. Jan-Feb 2011; 56(1):36-53. https://www.ncbi.nlm.nih.gov/pubmed/21056447.
      2. Ahnood D, Madhusudhan S, Tsaloumas MD, Waheed NK, Keane PA, Denniston AK. Punctate inner choroidopathy: A review. Surv Ophthalmol. March-April 2017; 62(2):113-126. https://www.ncbi.nlm.nih.gov/pubmed/27751823.