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Disease Profile
Best 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
Childhood
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)
Best disease; Best macular dystrophy; Macular degeneration, polymorphic vitelline;
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected.[1] BVMD is characterized by atrophy of the retinal pigment epithelium (The retina is the back part of the eye that contains the specialized
Symptoms
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 | ||
Cystoid macular degeneration | 0008028 | |
Metamorphopsia | 0012508 | |
30%-79% of people have these symptoms | ||
Color vision defect |
Abnormal color vision
Abnormality of color vision
[ more ] |
0000551 |
5%-29% of people have these symptoms | ||
Choroideremia | 0001139 | |
Visual field defect |
Partial loss of field of vision
|
0001123 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal electroretinogram | 0000512 | |
0000006 | ||
Macular dystrophy | 0007754 | |
Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
Subretinal fluid | 0031526 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Cause
Diagnosis
The EOG, which reflects the retinal pigmentary epithelium function, is the most diagnostic test for evaluating vitelliform macular dystrophy. In the majority of the cases, a severe decrease occurs in light response, reflected by an Arden (light-peak/dark-trough) ratio of 1.1-1.5. (The normal Arden ratio is 1.8.)
The family history in affected people is often consistent with either
Treatment
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
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Differential diagnosis of BVMD includes adult-onset foveomacular vitelliform dystrophy, age-related macular degeneration, autosomal recessive bestrophinopathy, autosomal dominant vitreoretinochoroidopathy, retinitis pigmentosa (see these terms) and Bull's-eye maculopathy.
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
-
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 1-800-683-5555
Telephone: +1-410-423-0600
TTY: 1-800-683-5551
E-mail: info@fightblindness.org
Website: https://www.fightingblindness.org/ -
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: info@preventblindness.org
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: info@aph.org
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: jamesj@eyeresearch.org
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: avril.daly@retina-International.org
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 Best vitelliform macular dystrophy. This website is maintained by the National Library of Medicine.
- 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
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
- 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 Best vitelliform macular dystrophy. Click on the link to view a sample search on this topic.
References
- MacDonald IM & Lee T. Best Vitelliform Macular Dystrophy. GeneReviews. December 12, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1167/.
- Ian MacDonald. Best vitelliform macular dystrophy. Orphanet. December, 2013; https://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=1243.
- Vitelliform macular dystrophy. Genetics Home Reference. December, 2013; https://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy.
- Altaweel M. Best Disease. Medscape Reference. 2016; https://emedicine.medscape.com/article/1227128.
- Besch D, Zrenner E. Best disease. Orphanet. 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1243.
- MacDonald IM, Lee T. Best Vitelliform Macular Dystrophy. GeneReviews. 2013; https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bvd.
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