U.S. flag

An official website of the United States government


Send to:

Choose Destination

Search results

Items: 2


Vitelliform macular dystrophy 2

Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma. [from GeneReviews]

MedGen UID:
Concept ID:
Disease or Syndrome

Subretinal fluid

Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane. [from HPO]

MedGen UID:
Concept ID:

Supplemental Content

Find related data

Search details

See more...

Recent activity