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Adult-onset vitelliform macular dystrophy
Other Names for this Disease
- Adult-onset foveomacular vitelliform dystrophy
- AVMD
- Foveomacular dystrophy, adult-onset, with choroidal neovascularization
- Foveomacular dystrophy, adult-onset; AOFMD
- Macular dystrophy, vitelliform, adult-onset
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Overview
Adult-onset vitelliform macular dystrophy (AVMD) is a genetic eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells.[1] Signs and symptoms usually begin between ages 30 and 50 and include blurred and/or distorted vision, often progressing to central vision loss over time.[2][3][1] It is caused by mutations in the PRPH2 or BEST1 genes; other unidentified genes may cause AVMD as well. It is thought to be inherited in an autosomal dominant manner, although not all individuals who inherit the mutated gene develop symptoms.[2][1]
References
- Vitelliform macular dystrophy. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy. Accessed September 4, 2012.
- Cassandra L. Kniffin. MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET. OMIM. http://omim.org/entry/608161. Accessed September 4, 2012.
- Do P, Ferrucci . Adult-onset foveomacular vitelliform dystrophy. Optometry. April 2006.
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General Information
- Genetics Home Reference (GHR) contains information on Adult-onset vitelliform macular dystrophy. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Adult-onset vitelliform macular dystrophy. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Adult-onset vitelliform macular dystrophy. Click on the link to go to OMIM and review these resources.