Rare Immunology News
Advertisement
Disease Profile
Vogt-Koyanagi-Harada disease
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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)
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
Symptoms
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 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Cause
Diagnosis
Treatment
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
-
American Uveitis Society
Office of the Executive Secretary
700 18th Street South Suite 601
Birmingham, AL 35233
Telephone: +1-205-325-8507
Website: https://uveitissociety.org/
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/
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
- O'Keefe GA, Rao NA. Vogt-Koyanagi-Harada disease. Surv Ophthalmol. 2017; 62(1):1-25. https://pubmed.ncbi.nlm.nih.gov/27241814.
- 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.
- 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.
- 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.
- 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.
- Walton RC. Vogt-Koyanagi-Harada Disease. National Organization of Rare Disorders (NORD). February 12, 2014; https://rarediseases.org/rare-diseases/vogt-koyanagi-harada-disease/.
Rare Immunology News