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Disease Profile
Adult-onset vitelliform macular dystrophy
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
Adult
ICD-10
H35.5
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)
AVMD; Macular dystrophy, vitelliform, adult-onset; Vitelliform macular dystrophy, adult-onset;
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
Adult-onset vitelliform macular dystrophy (AVMD) is an
Symptoms
Studies have revealed much variability in the signs, symptoms and progression of this condition. Some people with AVMD do not have any visual symptoms throughout their life. Others may experience ongoing visual loss, but for most people the vision loss is not severe. In general, the long-term outlook (
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 | ||
Vitelliform-like macular lesions | 0007677 | |
30%-79% of people have these symptoms | ||
Choroideremia | 0001139 | |
Color vision defect |
Abnormal color vision
Abnormality of color vision
[ more ] |
0000551 |
Iris hypopigmentation |
Light eye color
|
0007730 |
Visual field defect |
Partial loss of field of vision
|
0001123 |
5%-29% of people have these symptoms | ||
Retinal nonattachment | 0007899 | |
1%-4% of people have these symptoms | ||
Choroidal neovascularization | 0011506 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Drusen | 0011510 | |
Macular atrophy | 0007401 | |
Macular dystrophy | 0007754 | |
Metamorphopsia | 0012508 | |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
Cause
Currently known genetic causes include
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
CNV is sometimes associated with adult-onset vitelliform macular dystrophy because macular degeneration can damage the retinal layers. When this happens, the vascular layer of the eye between the sclera and the retina known as the choroid may produce new blood vessels (neovascularization) which grow up through the damaged layers and leak or bleed into the retina. This can cause vision loss on its own. If CNV does develop, anti-VEGF therapy such as Ranibizumab or Bevacizumab can control and even reverse the CNV. However anti-VEGF therapy does not stop or reverse the vision loss caused by adult-onset vitelliform macular dystrophy, only the extra vision loss that is due to also developing CNV.[2]
Although vision loss is usually slow, when vision is impaired significantly, people with adult-onset vitelliform macular dystrophy may be referred for low vision testing and rehabilitation. Low vision rehabilitation can help maintain and optimize reading ability and improve overall quality of life.[4][5]
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis of AOFVD includes Best vitelliform macular dystrophy, Stargardt disease, central areolar choroidal dystrophy, central serous retinopathy (CSR), pigmented epithelial detachment (PED), basal laminar drusen, acute exudative polymorphous vitelliform maculopathy (AEPVM) (see these terms) and occult CNV secondary to AMD.
Visit the Orphanet disease page for more information.
|
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
-
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: [email protected]
Website: https://www.preventblindness.org/
Organizations Providing General Support
-
American Foundation for the Blind
1401 South Clark Street
Suite 730
Arlington, VA 22202
Toll-free: 800-232-5463
Telephone: 212-502-7600
E-mail: [email protected]
Website: https://www.afb.org/ -
National Alliance for Eye and Vision Research (NAEVR)
5515 Security Lane
Suite 500
Rockville, MD 20852
Telephone: +1-240-221-2905
E-mail: [email protected]
Website: https://www.eyeresearch.org/ -
Retina International
Suite 108, Camden Business Centre
12 Camden Row
Dublin 8
Ireland
Telephone: +353 1 472 0468
E-mail: [email protected]
Website: https://www.retina-international.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
- MedlinePlus Genetics contains information on Adult-onset vitelliform macular dystrophy. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Adult-onset vitelliform macular dystrophy. Click on the link to view a sample search on this topic.
References
- Vitelliform macular dystrophy. Genetics Home Reference. December 2013; https://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy.
- Chowers I, Tiosano L, Audo I, Grunin M, Boon CJ. Adult-onset foveomacular vitelliform dystrophy: A fresh perspective. Progress in Retinal and Eye Research. February 2015; 47:64-85. https://www.ncbi.nlm.nih.gov/pubmed/25681578.
- Tiosano L, Grunin M, Hagbi-Levi S, Banin E, Averbukh E, Chowers I. Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy. British Journal of Opthalmology. November, 2016; 100(11):1476-1481. https://www.ncbi.nlm.nih.gov/pubmed/26802173.
- Chan, S and Macdonald I. Adult-onset foveomacular vitelliform dystrophy. Orphanet. December 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99000.
- Grenga PL, Fragiotta S, Cutini A, Meduri A, Vingolo EM. Microperimetric evaluation in patients with adult-onset foveomacular vitelliform dystrophy. Indian Journal of Ophthalmology. 2017;65(5):. May 2017; 65(5):385-389. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565886/.
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