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Genetics Home Reference: your guide to understanding genetic conditions
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Vitelliform macular dystrophy

Reviewed December 2013

What is vitelliform macular dystrophy?

Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy 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.

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. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night.

Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.

How common is vitelliform macular dystrophy?

Vitelliform macular dystrophy is a rare disorder; its incidence is unknown.

What genes are related to vitelliform macular dystrophy?

Mutations in the BEST1 and PRPH2 genes cause vitelliform macular dystrophy. BEST1 mutations are responsible for Best disease and for some cases of the adult-onset form of vitelliform macular dystrophy. Changes in the PRPH2 gene can also cause the adult-onset form of vitelliform macular dystrophy; however, less than a quarter of all people with this form of the condition have mutations in the BEST1 or PRPH2 gene. In most cases, the cause of the adult-onset form is unknown.

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.

The PRPH2 gene provides instructions for making a protein called peripherin 2. This protein is essential for the normal function of light-sensing (photoreceptor) cells in the retina. Mutations in the PRPH2 gene cause vision loss by disrupting structures in these cells that contain light-sensing pigments. It is unclear why PRPH2 mutations affect only central vision in people with adult-onset vitelliform macular dystrophy.

Related Gene(s)

Changes in these genes are associated with vitelliform macular dystrophy.

  • BEST1
  • PRPH2

How do people inherit vitelliform macular dystrophy?

Best disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

The inheritance pattern of adult-onset vitelliform macular dystrophy is uncertain. Some studies have suggested that this disorder may be inherited in an autosomal dominant pattern. It is difficult to be sure, however, because many affected people have no history of the disorder in their family, and only a small number of affected families have been reported.

Where can I find information about diagnosis or management of vitelliform macular dystrophy?

These resources address the diagnosis or management of vitelliform macular dystrophy and may include treatment providers.

  • Gene Review: Best Vitelliform Macular Dystrophy (http://www.ncbi.nlm.nih.gov/books/NBK1167)
  • Genetic Testing Registry: Macular dystrophy, vitelliform, adult-onset (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1842914)
  • Genetic Testing Registry: Vitelliform dystrophy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0339510)
  • MedlinePlus Encyclopedia: Macula (image) (http://www.nlm.nih.gov/medlineplus/ency/imagepages/9608.htm)

You might also find information on the diagnosis or management of vitelliform macular dystrophy in Educational resources (http://www.ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about vitelliform macular dystrophy?

You may find the following resources about vitelliform macular dystrophy helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for vitelliform macular dystrophy?

  • vitelliform dystrophy

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about vitelliform macular dystrophy?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding vitelliform macular dystrophy?

autosomal ; autosomal dominant ; cell ; channel ; chloride ; epithelium ; gene ; incidence ; inheritance ; inheritance pattern ; inherited ; ions ; juvenile ; lipofuscin ; macula ; peripheral ; photoreceptor ; pigment ; protein ; retina ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009 May;28(3):187-205. doi: 10.1016/j.preteyeres.2009.04.002. Epub 2009 Apr 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19375515?dopt=Abstract)
  • Do P, Ferrucci S. Adult-onset foveomacular vitelliform dystrophy. Optometry. 2006 Apr;77(4):156-66. (http://www.ncbi.nlm.nih.gov/pubmed/16567277?dopt=Abstract)
  • Felbor U, Schilling H, Weber BH. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat. 1997;10(4):301-9. (http://www.ncbi.nlm.nih.gov/pubmed/9338584?dopt=Abstract)
  • Gene Review: Best Vitelliform Macular Dystrophy (http://www.ncbi.nlm.nih.gov/books/NBK1167)
  • Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet. 2000 Apr;8(4):286-92. (http://www.ncbi.nlm.nih.gov/pubmed/10854112?dopt=Abstract)
  • Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH. Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina. 2004 Dec;24(6):929-39. (http://www.ncbi.nlm.nih.gov/pubmed/15579992?dopt=Abstract)
  • Renner AB, Tillack H, Kraus H, Krämer F, Mohr N, Weber BH, Foerster MH, Kellner U. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005 Apr;112(4):586-92. (http://www.ncbi.nlm.nih.gov/pubmed/15808248?dopt=Abstract)
  • Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. Ophthalmology. 2001 Nov;108(11):2060-7. (http://www.ncbi.nlm.nih.gov/pubmed/11713080?dopt=Abstract)
  • Spaide RF, Noble K, Morgan A, Freund KB. Vitelliform macular dystrophy. Ophthalmology. 2006 Aug;113(8):1392-400. (http://www.ncbi.nlm.nih.gov/pubmed/16877078?dopt=Abstract)
  • Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213-8. (http://www.ncbi.nlm.nih.gov/pubmed/8485576?dopt=Abstract)
  • White K, Marquardt A, Weber BH. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat. 2000;15(4):301-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10737974?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2013
Published: September 29, 2014