Rare Infectious Disease News

Disease Profile


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.


Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


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.


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.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


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.


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.


Not applicable


Other names (AKA)

Edema of the optic disc; Choked disk


Papilledema is a condition in which increased pressure in or around the brain (intracranial pressure) causes swelling of the part of the optic nerve inside the eye (optic disc). Symptoms of increased intracranial pressure include headache or nausea and vomiting. Vision problems are not common initially, but may include short flickers of gray vision, blurred or double vision, and decreased field of vision or ability to see colors. Both eyes are usually affected. Papilledema by definition is caused by increased cranial pressure. Diagnosis includes a thorough eye exam by an ophthalmologist. Brain imaging studies (for example CT scan or MRI) are used to find the cause of the increased intracranial pressure. Treatment depends on the cause of the increased pressure but may include medications, surgery and/or weight management.[1][2]


Since papilledema is caused by increased pressure in or around the brain (intracranial pressure), it is most important to find the cause of the increased intracranial pressure. These causes include:[1][2]

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

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


  1. Gossman MV. Papilledema. Medscape Reference. May 16 2016; https://emedicine.medscape.com/article/1217204-overview.
  2. Garrity J. Papilledema. Merck Manual: Professional Version. April 2016; https://www.merckmanuals.com/professional/eye-disorders/optic-nerve-disorders/papilledema.

Rare Infectious Disease News