Autosomal recessive bestrophinopathy
Summary
Excerpted from the GeneReview: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.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Ian M MacDonald
- Thomas Lee
- Jessica Lawrence
- view full author information
Available tests
44 tests are in the database for this condition.
Clinical features
Help- Abnormality of the eye
- Decreased light- and dark-adapted electroretinogram amplitude
Decreased light- and dark-adapted electroretinogram amplitude
- MedGen UID: 326793
- Concept ID: C1839025
- Finding: Finding
Abnormality of the eye
- Hypermetropia
Hypermetropia
- MedGen UID: 43780
- Concept ID: C0020490
- Finding: Disease or Syndrome
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Retinal flecks
Retinal flecks
- MedGen UID: 602327
- Concept ID: C0423414
- Finding: Finding
Abnormality of the eye
- Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy
- MedGen UID: 333564
- Concept ID: C1840457
- Finding: Finding
Abnormality of the eye
- Decreased light- and dark-adapted electroretinogram amplitude
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