RESUMEN
PURPOSE: To report functional and anatomical outcomes of anti-VEGF treatment in eyes with autosomal recessive Bestrophinopathy (ARB) presenting in the first decade of life. METHODS: Case series of four eyes from two siblings with compound heterozygous mutations in the BEST1 gene who were treated with eight monthly intravitreal bevacizumab (IVB) injections. Response to treatment was analyzed using fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), OCT angiography (OCTA), and Microperimetry (MP). RESULTS: Patient-1 (male, age 9 yrs.) with visual acuity of 20/20 OD and 20/50 OS. Patient-2 (female, age 10 yrs.), with visual acuity of 20/25 OD, 20/20 OS. All eyes had multifocal subretinal deposition of lipofuscin, subretinal fluid and three had choroidal neovascularization (CNV). Lipofuscin material reabsorbed in 2/4 eyes, the CNV regressed in 3/3, a bacillary detachment resolved (1/1) but the subretinal fluid did not change. Functional improvement in visual acuity was noted but MP showed scattered areas of reduced retinal sensitivity. No ocular or systemic side effects were detected. CONCLUSION: Anti-VEGF treatment of choroidal neovascularization in eyes with ARB resulted in anatomical changes that were only clinically significant in the eye with decreased visual acuity. The hyporeflective subretinal material remained unchanged suggesting a non-exudative cause. These findings provide new insights into the management of ARB, especially in pediatric subjects with CNV.
