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Best vitelliform macular dystrophy


Other Names for this Disease

  • Best disease
  • Best macular dystrophy
  • Macular degeneration, polymorphic vitelline
  • Vitelliform macular dystrophy type 2
  • VMD2
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 is a genetic form of macular degeneration that usually begins in childhood or adolescence and slowly progresses to affect central vision.[1][2][3] Individuals typically retain normal peripheral vision and dark adaptation.[2][3] The age of onset and severity of vision loss are highly variable.[1][2][3] Best vitelliform macular dystrophy is an autosomal dominant condition which is associated with an abnormality in the BEST1 (VMD2) gene.[1][2] There is no specific treatment for vitelliform macular dystrophy at this time.[4] Low vision aids may be helpful.[3]
Last updated: 9/10/2010

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.[5]
Last updated: 9/10/2010

What genes are related to Best vitelliform macular dystrophy?

Mutations in the BEST1 (VMD2) gene cause vitelliform macular dystrophy.[1][2] The BEST1 gene provides instructions for making a protein called bestrophin. This protein acts as a channel that controls the movement of charged chlorine atoms (chloride ions) into or out of cells in the retina. Mutations in the BEST1 gene probably lead to the production of an abnormally shaped channel that cannot properly regulate the flow of chloride. Researchers have not determined how these malfunctioning channels are related to the buildup of lipofuscin in the macula and progressive vision loss.[2] 
Last updated: 7/29/2009

How do people inherit Best vitelliform macular dystrophy?

Best vitelliform macular dystrophy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.[1][2][6] In most cases, an affected person has one parent with the condition.[2][3]
Last updated: 7/29/2009

Is there treatment for individuals with Best vitelliform macular dystrophy?

There is no specific treatment for Best vitelliform macular dystrophy at this time.[4][5]  Low vision aids provide benefit for those individuals with significant deterioration in visual acuity.[3] 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 manifestations of Best vitelliform macular dystrophy such as choroidal neovascularization (when abnormal blood vessels grow under the macula and retina).[3][4][5] 

Most current research is aimed at understanding the genetic cause of the disorder, which may aid in the development of treatment options.[6]
Last updated: 1/17/2013

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
  • Macular degeneration, polymorphic vitelline
  • Vitelliform macular dystrophy type 2
  • VMD2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.