Best vitelliform macular dystrophy

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Disease Overview

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.[8276] BVMD is characterized by atrophy of the retinal pigment epithelium (The retina is the back part of the eye that contains the specialized cells that respond to light, known as  photoreceptors) and impaired central visual function.[8310] 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, and direct laser treatment or photodynamic therapy. Newer treatment includes anti-VEGF agents (bevacizumab) and transcorneal electrical retinal stimulation.[8276]


Synonyms

  • Best disease
  • Best macular dystrophy
  • Macular degeneration, polymorphic vitelline
  • Vitelliform macular dystrophy type 2
  • VMD2
  • BVMD
  • Early-onset vitelliform macular dystrophy
  • Juvenile-onset vitelliform macular dystrophy
  • Polymorphic vitelline macular degeneration

For more information, visit GARD.

National Organization for Rare Disorders