Best vitelliform macular dystrophy
- Best disease
- Best macular dystrophy
- Early-onset vitelliform macular dystrophy
Your QuestionCan 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?
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Questions on this page
- What is Best vitelliform macular dystrophy?
- How does Best vitelliform macular dystrophy affect vision?
- What causes Best vitelliform macular dystrophy?
- How is Best vitelliform macular dystrophy inherited?
- How might Best vitelliform macular dystrophy be treated?
- Are there support organizations or chat rooms that I can visit to connect with others with Best vitelliform macular dystrophy?
Best vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. 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.
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.
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.
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.
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
Association for Macular Disease, Inc.
210 East 64th Street
New York NY 10065
Macular Degeneration Foundation
PO Box 531313
Henderson NV 89053
Foundation Fighting Blindness
11435 Cronhill Drive
Owings Mills MD 21117-2220
Phone: 410-568-0150 (local)
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
Message board for Best disease: http://www.afb.org/message_board_replies2.asp?TopicID=3334&FolderID=14
- Ian M MacDonald and Thomas Lee. Best Vitelliform Macular Dystrophy. GeneReviews. December 12, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1167/.
- Vitelliform macular dystrophy. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=vitelliformmaculardystrophy. Accessed 7/28/2009.
- Altaweel M. Best Disease. eMedicine. February 11, 2010; http://emedicine.medscape.com/article/1227128. Accessed 9/10/2010.
- Vitelliform macular dystrophy. Genetics Home Reference. December, 2013; http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy.
- Besch D, Zrenner E. Best disease. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1243. Accessed 7/28/2009.
- MacDonald IM, Lee T. Best Vitelliform Macular Dystrophy. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bvd. Accessed 7/28/2009.
- Best disease. National Center for Biotechnology Information (NCBI). http://www.ncbi.nlm.nih.gov/books/NBK22187/. Accessed 7/29/2009.