Best vitelliform macular dystrophy

Información en español Title

Other Names:

Best disease; Best macular dystrophy; Macular degeneration, polymorphic vitelline; Best disease; Best macular dystrophy; Macular degeneration, polymorphic vitelline; Vitelliform macular dystrophy type 2; VMD2; BVMD; Early-onset vitelliform macular dystrophy; Juvenile-onset vitelliform macular dystrophy; Polymorphic vitelline macular degeneration See More

Categories:

Congenital and Genetic Diseases; Eye diseases

Summary 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 cells that respond to light, known as photoreceptors) and impaired central visual function.^[2] BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids, and direct laser treatment or photodynamic therapy. Newer treatment includes anti-VEGF agents (bevacizumab) and transcorneal electrical retinal stimulation.^[1]

Last updated: 10/13/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Cystoid macular degeneration	Very frequent (present in 80%-99% of cases)
Metamorphopsia	Very frequent (present in 80%-99% of cases)
Visual impairment	Very frequent (present in 80%-99% of cases)
Abnormality of color vision	Frequent (present in 30%-79% of cases)
Choroideremia	Occasional (present in 5%-29% of cases)
Visual field defect	Occasional (present in 5%-29% of cases)
Abnormal electroretinogram	-
Autosomal dominant inheritance	-
Macular dystrophy	-
Reduced visual acuity	-

Last updated: 7/1/2017

Cause Cause

Best vitelliform macular dystrophy (BVMD) is caused by changes (mutations) in the BEST1 gene.^[1] This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. It is thought that mutations in the BEST1 gene affect the shape of the channel and its ability to properly regulate the flow of chloride. However, it is unclear how exactly this relates to the specific features of BVMD.^[3]

Last updated: 10/13/2016

Inheritance Inheritance

Best vitelliform macular dystrophy (BVMD) is most commonly inherited in an autosomal dominant manner, although a few cases with autosomal recessive inheritance have been reported.^[1]

In autosomal dominant inheritance, having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. Most people with BVMD have an affected parent, but some people have the condition as the result of a new mutation that occurred for the first time.^[1]

Autosomal recessive inheritance means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated: 10/13/2016

Diagnosis Diagnosis

Best vitelliform macular dystrophy (BVMD) may be diagnosed based on the findings on an exam of the fundus (the interior surface of the eye opposite the lens); an electrooculogram (EOG); and the family history. An eye exam may include other tests as well. A fundus exam may show a typical yellow yolk-like macular lesion.

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.) Carriers will also have an abnormal EOG result.No correlation exists between EOG result and disease stage, visual acuity, or patient age. EOG results are usually symmetric for both eyes.^[4]

The family history in affected people is often consistent with either autosomal dominant or autosomal recessive inheritance.^[1]

Genetic testing may also be used to make a diagnosis of BVMD. A BEST1 mutation is detected in about 96% of affected people who have an affected family member. In people with no family history of BVMD, the mutation detection rate ranges between 50-70%. A mutation in BEST1 gene is more probable when a vitelliform lesion is accompanied by a reduced Arden ratio on EOG testing. The exact type of genetic test ordered to confirm a diagnosis may depend on a person's ancestry, family history, and/or whether other eye disorders are also being considered.^[1]

Last updated: 10/14/2016

Treatment Treatment

There is no specific treatment for Best vitelliform macular dystrophy (BVMD) at this time.^[5]^[4] Low vision aids help affected people with significant loss of visual acuity.^[6] Laser photocoagulation, photodynamic therapy, and anti-VEGF (vascular endothelial growth factor) agents such as bevacizumab have shown limited success in treating some of the secondary features of BVMD such as choroidal neovascularization (when abnormal blood vessels grow under the macula and retina).^[6]^[5]^[4]

Last updated: 10/13/2016

Management Guidelines

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.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Best vitelliform macular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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 Foundation for the Blind
2 Penn Plaza, Suite 1102
New York, NY 10121
Toll-free: 800-232-5463
Telephone: 212-502-7600
Fax: 888-545-8331
E-mail: afbinfo@afb.net
Website: http://www.afb.org/
Association for Macular Disease, Inc.
210 East 64th Street
8th Floor
New York, NY 10065
Telephone: 212-605-3719
Fax: 212-605-3795
E-mail: association@retinal-research.org
Website: http://www.macula.org
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 800-683-5555
Telephone: 410-423-0600 (local)
TTY: 800-683-5551
E-mail: info@fightblindness.org
Website: http://www.blindness.org
Macular Degeneration Foundation
PO Box 531313
Henderson, NV 89053
Telephone: 888-633-3937
Fax: 702-450-3396
Website: http://www.eyesight.org
National Alliance for Eye and Vision Research (NAEVR)
1801 Rockville Pike, Suite 400
Rockville, MD 20852
Telephone: 240-221-2905
Fax: 240-221-0370
E-mail: jamesj@eyeresearch.org
Website: http://www.eyeresearch.org/
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
Website: http://www.preventblindness.org/
Retina International
Ausstellungsstrasse 36
CH-8005 Zurich
Switzerland
Telephone: + 41 (0) 44 444 10 77
Fax: + 41 (0) 44 444 10 70
E-mail: christina.fasser@retina-international.org
Website: http://www.retina-international.org

Social Networking Websites

The American Foundation for the Blind and also has a message board for parents and health care providers to post messages about children with various eye conditions. Click on the link above to view these message boards.
The Foundation Fighting Blindness has a message board for Best disease.

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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

Genetics Home Reference (GHR) 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

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I'm a 29 yr old male. I made an appointment with a retina specialist because lines appear to look wavy. My doctor said it looks like Best disease but he is not 100% sure. Can it be something else? Is their another illness that's similar to Best? See answer
My girlfriend has Best vitelliform macular dystrophy and I feel helpless because she tells me there is nothing anyone could do. Are there any clinical trials or research studies for this type of disease? Is there any treatment that can help? Also, can you go completely blind from this condition? See answer
My friend has Best disease in his right eye. His vision in this eye is quite stable, although he sees a black spot wherever he focuses. Will his vision remain the same or it can it deteriorate? Is there any way to improve his vision? What are the chances of his left eye also developing Best disease? See answer
Can you provide updated information about Best vitelliform macular dystrophy? Are there support organizations or chat rooms that I can visit to connect with others with this diagnosis? See answer