Diagnosis: Autosomal Recessive Bestrophinopathy (ARB)6:
ARB is an autosomal recessive disease resulting from bi-allelic homozygous or compound heterozygous mutations within the BEST1 locus
ARB presents with an alteration in the RPE leading to the formation of multiple subretinal deposits at the macula and into the midperipheral retina. The distinctive vitelliform macular lesions seen in Best disease are rare in these cases.
The fundus in ARB has a speckled appearance with multiple yellow/white, round, demarcated, and partially confluent lesions located in the macula and vascular arcades at the posterior pole and around the optic nerve.
ARB also appears to affect the periphery indicated by the presence of peripheral drusen and RPE atrophy.
ARB presents with accumulation of subretinal fluid which is in a diffuse area often throughout the posterior pole. This can potentially progress to cystoid macular edema with retina fibrosis. More than half of eyes with ARB also have intraretinal fluid that typically remains stable over time.
Developmental anomalies are sometimes present which include hyperopia and shallow anterior chambers, increasing risk of acute angle closure glaucoma.