autosomal recessive bestrophinopathy autosomal recessive bestrophinopathy autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss, retinopathy, absence of an electrooculogram light rise, and decreased electroretinogram. other findings include dispersed punctate flecks, macular neurosensory retina fluid build-up, hyperopia, macular thinning, and (less commonly) angle-closure glaucoma. autosomal recessive bestrophinopathyspecialtymedical geneticssymptomsocularcomplicationsvision impairmentusual onsetchildhooddurationlifelongcausesgenetic mutationpreventionnoneprognosismediumfrequencyrare, about 20 cases have been described in medical literaturedeaths- it is caused by hereditary autosomal recessive mutations in the best1 gene, located in chromosome 11, and it has been described in less than 20 individuals from 10 families worldwide.