Best macular vitelliform dystrophy is a childhood macular dystrophy autosomal dominantly inherited due to problems in the VMD2/BEST 1 gene on chromosome 11 encoding for the protein BESTROPHIN. The disease is RPE dystophy due to problemative conductance across the chloride channel controlled by the bestrophin gene present on the basolateral aspect of the RPE.
it evolves through 6 clinical stages namely ; previtelliform stage, vitelliform stage, pseudohypopyon stage, vitellodisrupted stage and atrophic stage . 20% of the patients can have thier course complicated with a choroidal neovascular memberane.
The common investigative modalities for the best disease are the OCT, Electrooculogram ( decreased ardens ratio), ERG, FFA, Fundus autoflourescence.
#ophthalmology
#best disease
#vitelliform dystrophy
#retina
5 сен 2024
