Best Disease Differential Diagnoses

Updated: Nov 30, 2023
  • Author: Paige J Richards, MD; Chief Editor: Donny W Suh, MD, MBA, FAAP, FACS  more...
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Diagnostic Considerations

Autosomal-recessive bestrophinopathy

Autosomal-recessive bestrophinopathy results from a homozygous or compound heterozygous BEST1 mutation. The age of onset is between 4 and 40 years, and the condition results in vision deterioration to below 20/70 within a few years. Fundus examination reveals irregular RPE and white subretinal deposits in the macula and midperiphery. Affected individuals may not have vitelliform lesions. EOG is severely reduced, and the pattern ERG is markedly abnormal. [19]

Autosomal-recessive bestrophinopathy: Atrophic cen Autosomal-recessive bestrophinopathy: Atrophic central lesion and white subretinal deposits along the vascular arcades in a 14-year-old female with 20/70 vision and no family history of Best macular dystrophy.

Differential Diagnoses

  • Adult-Onset Vitelliform Macular Dystrophy (Pattern Dystrophy)

  • Autosomal-Recessive Bestrophinopathy

  • Basal Laminar Drusen

  • Central Serous Chorioretinopathy With Subretinal Fibrin

  • Exudative (Wet) Age-Related Macular Degeneration (AMD)

  • Fundus Flavimaculatus (Stargardt Disease)

  • Resolving Subretinal Hematoma