Color photography of our patient’s eyes shows partially scrambled Best lesions. OCT scanning through the superior lesion shows a mostly hyporeflective elevation of the neurosensory retina, with shaggy hyperreflective material along the posterior edge of the outer segments. OCT scanning through the inferior lesion shows hyperreflective layering of the vitelliform material.
Learning Points:
Best disease is associated with a mutation in the BEST1 gene, which encodes bestrophin-1. Bestrophin-1, a calcium-activated chloride channel, is primarily found in the basolateral plasma membrane of the RPE. BEST1 mutations cause a variety of phenotypes, including autosomal recessive bestrophinopathy, best vitelliform macular dystrophy, and autosomal dominant vitreoretinochoroidopathy.
Our patient has progressed to the ‘scrambled egg’ appearance. The remaining vitelliform material gravitates inferiorly, often leaving an optically empty, hyporeflective space between the RPE and outer retina. Eventually, the retina flattens, with secondary outer retinal atrophy.
