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GENATLAS PHENOTYPE
last update : 04/06/12
Symbol ARB
Location 11q12
Name autosomal recessive bestrophinopathy
Corresponding gene BEST1
Main clinical features
  • retinal dystrophy associated with central visual loss, an absent electro-oculogram light rise, a reduced electroretinogram at the fundus, presence of diffuse alterations of retinal pigmented epithelium and white subretinal deposits in macular area and midperiphery
  • abnormal full-field ERGs in addition to a severe reduction in the EOG light rise analogous to that seen with dominant BEST1 mutations
  • bilateral macular vitelliform lesions, subretinal thickening, advanced angle closure glaucoma and anatypical electrooculography (PMID:21921978))
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name bestrophin 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function homozygosity or compound heterozygosity severely reduce bestophin-1 function (PMID:18179881)
    missense   abnormal protein/loss of function . smaller chloride currents . cellular localization of ARB mutants did not traffic correctly to the plasma membrane and are rapidly degraded by the proteasome (PMID:21330666)
    missense     c.914T>C, p.Phe305Ser (PMID:21921978)
    Remark(s)