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Disease Profile

Vogt-Koyanagi-Harada disease

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

All ages

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ICD-10

H20.8 H30.8

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)

VKH syndrome; Vogt-Koyanagi-Harada syndrome; Uveomenigitic syndrome;

Categories

Eye diseases; Nervous System Diseases

Summary

Vogt-Koyanagi-Harada disease (VKH disease) affects the eyes, ears, nervous system, and skin. The symptoms of VKH occur in different phases. The early symptoms include headaches, eye pain, and dizziness. These are followed by hearing loss and inflammation of the eye (panuveitis). Later symptoms include development of white patches of skin and hair (vitiligo), hair loss (alopecia), cataracts, and glaucoma. The exact cause of VKH disease is unknown, but the symptoms are thought to be due to an abnormal response of the immune system to a viral infection. Genetic factors may be involved. Diagnosis of VKH disease is based on the symptoms, clinical exam, and imaging studies. Other more common diseases may need to excluded before a diagnosis of VKH disease is made. VKH disease is treated with corticosteroids and other medications.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in people with Vogt-Koyanagi-Harada disease. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.[2][3]

The symptoms of Vogt-Koyanagi-Harada(VKH) disease occur in different phases. In the early phase, symptoms may include:

  • Headache
  • Dizziness (vertigo)
  • Neck stiffness
  • Nausea and vomiting
  • Hearing loss
  • Ringing in the ears (tinnitus)

The uveitis phase occurs a few weeks after the early phase. In this phase, symptoms may include:

  • Blurry vision in one or both eyes
  • Inflammation of the eyes (panuveitis)
  • Floating spots in the vision (floaters) that are signs of retinal detachment

The convalescent phase usually occurs a few weeks to months after the uveitis phase. In this phase, symptoms may include:

  • Patches of white skin (vitiligo)
  • Patches of white hair, eyelashes, and eyebrows (poliosis)
  • Hair loss (alopecia)

The recurrent phase occurs in about half of the people with VKH disease. Symptoms may include:

  • Clouding of the lens (cataracts)
  • Build-up of pressure in the eyes (glaucoma)
  • Abnormal blood vessels growth under the retina (choroidal neovascularization)

Most people with VKH disease develop symptoms in both eyes. Vision and hearing problems can improve with treatment. The skin changes and hair loss may be permanent.

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
Abnormal eyebrow morphology
Abnormality of the eyebrow
0000534
Abnormal eyelash morphology
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality

[ more ]

0000499
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Hypopigmented skin patches
Patchy loss of skin color
0001053
Poliosis
Patch of white hair
White patch

[ more ]

0002290
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying

[ more ]

0002216
Sensorineural hearing impairment
0000407
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair

[ more ]

0002209
Vitiligo
Blotchy loss of skin color
0001045
30%-79% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Glaucoma
0000501
Retinal detachment
Detached retina
0000541
Short stature
Decreased body height
Small stature

[ more ]

0004322
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505

Cause

The exact cause of Vogt-Koyanagi-Harada (VKH) disease is not known. It is thought to be due to an abnormal immune response in which the body attacks its own pigment cells (melanocytes). In addition, genetic factors may play a role.[3][4]

Diagnosis

Vogt-Koyanagi-Harada (VKH) disease is diagnosed based on the symptoms, clinical exam, eye exam, and imaging studies. In addition, other more common conditions may need to be excluded before VKH disease can be diagnosed.[3] A set of standard signs and symptoms have been published to help guide the diagnosis of VKH disease.[5]

Treatment

Treatment of Vogt-Koyanagi-Harada (VKH) disease is focused on managing the symptoms. Treatment usually involves early and aggressive treatment with systemic corticosteroids (steroids). Other medications may be used as well.[2][3]

Specialists involved in the care of someone with VKH disease may include:[6] 

  • Dermatologist
  • Ophthalmologist
  • Neurologist

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

      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 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.
        • 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.
        • 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 Vogt-Koyanagi-Harada disease. Click on the link to view a sample search on this topic.

          References

          1. O'Keefe GA, Rao NA. Vogt-Koyanagi-Harada disease. Surv Ophthalmol. 2017; 62(1):1-25. https://pubmed.ncbi.nlm.nih.gov/27241814.
          2. Baltmr A, Ligtman S, Tomkins-Netzer O. Vogt-Koyanagi-Harada syndrome current perspectives. Clin Ophthalmol. 2016; 10:2345-2361. https://pubmed.ncbi.nlm.nih.gov/27932857.
          3. Street D, Sivaguru A, Sreekantam S, Mollan SP. Vogt-Koyanagi-Harada disease. Pract Neurol. 2019; 19(4):364-367. https://pubmed.ncbi.nlm.nih.gov/30890584.
          4. Lavezzo MM, Sakata VM, Morita C, et al. Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes. Orphanet J Rare Dis. 2016. 2016; 11:29. https://pubmed.ncbi.nlm.nih.gov/27008848.
          5. Yang P, Zhong Y, Du L, et al. Development and Evaluation of Diagnostic Criteria for Vogt-Koyanagi-Harada Disease. JAMA Ophthalmol. 2018; 136(9):1025-1031. https://pubmed.ncbi.nlm.nih.gov/29978190.
          6. Walton RC. Vogt-Koyanagi-Harada Disease. National Organization of Rare Disorders (NORD). February 12, 2014; https://rarediseases.org/rare-diseases/vogt-koyanagi-harada-disease/.

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