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Best vitelliform macular dystrophy


Other Names for this Disease
  • Best disease
  • Best macular dystrophy
  • BMD
  • BVMD
  • Early-onset vitelliform macular dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

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? 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Best vitelliform macular dystrophy?

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. 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.[1]
Last updated: 2/13/2015

How does Best vitelliform macular dystrophy affect vision?

Best vitelliform macular dystrophy affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, it disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.[2]

Best vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula.[2] Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Best vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night.[2]

Studies have shown that most people with Best vitelliform macular dystrophy retain enough vision for reading and driving in at least one eye into adulthood (88% have 20/40 or better vision). Vision usually deteriorates slowly and does not become significant until after age 40.[3]
Last updated: 9/10/2010

What causes Best vitelliform macular dystrophy?

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.[4]
Last updated: 2/13/2015

How is Best vitelliform macular dystrophy inherited?

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: 2/13/2015

How might Best vitelliform macular dystrophy be treated?

There is no specific treatment for Best vitelliform macular dystrophy (BVMD) at this time.[5][3] 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][3]
Last updated: 2/13/2015

Are there support organizations or chat rooms that I can visit to connect with others with Best vitelliform macular dystrophy? 

The following support organizations provide information and support for individuals with Best vitelliform macular dystrophy. Some of these groups have online message boards where individuals can share information.

The Association for Fighting Best Disease
Enbalim St' 27
Arad 80700
Israel
Phone: 972-8-9959018
Fax: 972-8-9953929 
Email: info@best.org.il 
Web: http://www.best.org.il/

Association for Macular Disease, Inc.
210 East 64th Street
8th Floor
New York NY 10065
Phone: 212-605-3719
Fax: 212-605-3795
Email: association@retinal-research.org
Web: www.macula.org

Macular Degeneration Foundation
PO Box 531313
Henderson NV 89053
Phone: 888-633-3937
Fax: 702-450-3396
Web: www.eyesight.org

Foundation Fighting Blindness
11435 Cronhill Drive
Owings Mills MD 21117-2220
Toll-free: 800-683-5555
Phone: 410-568-0150 (local)
TDD: 800-683-5551
Email: info@fightblindness.org
Web: www.blindness.org
Message board for Best disease: http://www.blindness.org/index.php?option=com_simplestforum&view=postlist&forumId=10&Itemid=161

American Foundation for the Blind
11 Penn Plaza
New York NY 10001
Toll-free: 800-232-5463
Phone: 212-502-7600
Email: afbinfo@afb.org 
Web: http://www.afb.org
Message board for Best disease: http://www.afb.org/message_board_replies2.asp?TopicID=3334&FolderID=14



 

Last updated: 7/29/2009

References
Other Names for this Disease
  • Best disease
  • Best macular dystrophy
  • BMD
  • BVMD
  • Early-onset vitelliform macular dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.