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Genetic and Rare Diseases Information Center (GARD)

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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
More Names
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Overview



What is adult-onset vitelliform macular dystrophy?

What are the signs and symptoms of adult-onset vitelliform macular dystrophy?

How might adult-onset vitelliform macular dystrophy be treated?


What is adult-onset vitelliform macular dystrophy?

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, which can progress 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]
Last updated: 10/3/2013

What are the signs and symptoms of adult-onset vitelliform macular dystrophy?

Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life.[4][5] At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mild metamorphopsia (distorted vision).[5] Cells underlying the macula become more damaged over time, which can cause slowly progressive vision loss.[4] The condition is usually bilateral (affecting both eyes).[5] It usually does not affect peripheral vision or the ability to see at night.[4]

Studies have revealed much variability in the signs, symptoms and progression of this condition. It has been reported that while one individual may not have significant changes in visual acuity over several years, another may experience ongoing visual loss. It has been suggested that in the majority of affected individuals, progression of functional loss is limited.[6] In general, the long-term outlook (prognosis) is usually good, but loss of central visual function is possible.[6]
Last updated: 10/3/2013

How might adult-onset vitelliform macular dystrophy be treated?

Management for this condition should include a comprehensive eye examination, including dilation, once or twice a year to rule out any possible complications. If vision is impaired, patients should be referred for low vision testing and rehabilitation. Intravitreal injections of either Ranibizumab or Bevacizumab may be effective in the short-term.[7] Transcorneal electrical stimulation has also been found to improve visual acuity in individuals with this condition.[8]
Last updated: 3/31/2014

References
  1. Vitelliform macular dystrophy. Genetics Home Reference. October 2008; http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy. Accessed 9/4/2012.
  2. Cassandra L. Kniffin. MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET. OMIM. December 13, 2006; http://omim.org/entry/608161. Accessed 9/4/2012.
  3. Do P, Ferrucci . Adult-onset foveomacular vitelliform dystrophy. Optometry. April 2006; 77(4):156-166.
  4. Vitelliform macular dystrophy. Genetics Home Reference. October 2008; http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy. Accessed 10/3/2013.
  5. Brecher R, Bird AC. Adult vitelliform macular dystrophy. Eye (Lond.). 1990; 4(Pt 1):210-215.
  6. Renner AB. et al. Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina. December 2004; 24(6):929-939.
  7. Chan, S and Macdonald I. Adult-onset foveomacular vitelliform dystrophy. Orphanet. December 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99000. Accessed 3/31/2014.
  8. Ozeki N, Shinoda K, Ohde H et al. Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy.. Graefes Arch Clin Exp Ophthalmol. April 19, 2013; 251(7):1867-70. http://www.ncbi.nlm.nih.gov/pubmed/23604515. Accessed 3/31/2014.