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Genetic and Rare Diseases Information Center (GARD)

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Best vitelliform macular dystrophy


Other Names for this Disease
  • Best disease
  • Best macular dystrophy
  • BMD
  • BVMD
  • Early-onset vitelliform macular dystrophy
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

My friend has Best disease in his right eye. His vision in this eye is quite stable, although he sees a black spot wherever he focuses. Will his vision remain the same or it can it deteriorate? Is there any way to improve his vision? What are the chances of his left eye also developing Best disease? 

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 (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids.[1]
Last updated: 2/13/2015

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.[3]
Last updated: 9/10/2010

What are the chances of developing Best vitelliform macular dystrophy in both eyes?

Various studies have shown that only about 4% of these individuals with Best vitelliform macular dystrophy develop vision less than 20/200 in the better eye.[3]
Last updated: 9/10/2010

How might Best vitelliform macular dystrophy be treated?

There is no specific treatment for Best vitelliform macular dystrophy (BVMD) at this time.[4][3] Low vision aids help affected people with significant loss of visual acuity.[5] 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 features of BVMD such as choroidal neovascularization (when abnormal blood vessels grow under the macula and retina).[5][4][3]
Last updated: 2/13/2015

References
Other Names for this Disease
  • Best disease
  • Best macular dystrophy
  • BMD
  • BVMD
  • Early-onset vitelliform macular dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.