Jacobs Mitchell, El-Rashedy May, Fowler Nicholas, Shirkey Belinda, Kitchens John, Maldonado Ramiro S
Department of Ophthalmology and Visual Sciences, University of Kentucky, Lexington, Kentucky.
Retina Associates of Kentucky, Lexington, Kentucky; and.
Retin Cases Brief Rep. 2024 May 1;18(3):378-386. doi: 10.1097/ICB.0000000000001390. Epub 2023 Dec 7.
The purpose of this study was to report functional and anatomical outcomes of anti-VEGF treatment in eyes with autosomal recessive bestrophinopathy (ARB) presenting in the first decade of life.
The study included case series of four eyes from two siblings with compound heterozygous mutations in the BEST1 gene who were treated with eight monthly intravitreal bevacizumab injections. Response to treatment was analyzed using color fundus photography, fundus autofluorescence, optical coherence tomography, OCT angiography, and microperimetry.
Patient 1 (male, age 9 years) had visual acuity of 20/20 in the right eye and 20/50 in the left eye. Patient 2 (female, age 10 years) had visual acuity of 20/25 in the right eye and 20/20 in the left eye. All eyes had multifocal subretinal deposition of lipofuscin and subretinal fluid, and three eyes had choroidal neovascularization (CNV). Lipofuscin material reabsorbed in 2 of 4 eyes, the CNV regressed in 3 of 3 eyes, a bacillary detachment resolved in 1 of 1 eye, 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.
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 nonexudative cause. These findings provide new insights into the management of ARB, especially in pediatric subjects with CNV.
本研究旨在报告抗血管内皮生长因子（VEGF）治疗在生命第一个十年出现的常染色体隐性遗传性Bestrophin病（ARB）眼中的功能和解剖学结果。
该研究纳入了来自两个兄弟姐妹的四只眼睛的病例系列，他们的BEST1基因存在复合杂合突变，接受了每月一次共八次的玻璃体内注射贝伐单抗治疗。使用彩色眼底照相、眼底自发荧光、光学相干断层扫描、OCT血管造影和微视野检查分析治疗反应。
患者1（男性，9岁）右眼视力为20/20，左眼视力为20/50。患者2（女性，10岁）右眼视力为20/25，左眼视力为20/20。所有眼睛均有脂褐素的多灶性视网膜下沉积和视网膜下液，三只眼睛有脉络膜新生血管（CNV）。4只眼中2只眼的脂褐素物质被重吸收，3只眼中3只眼的CNV消退，1只眼中1只眼的浆液性视网膜脱离得到解决，但视网膜下液未改变。视力有功能改善，但微视野检查显示视网膜敏感度降低的散在区域。未检测到眼部或全身副作用。
抗VEGF治疗ARB眼中的脉络膜新生血管导致了解剖学变化，仅在视力下降的眼中具有临床意义。低反射性视网膜下物质保持不变，提示非渗出性病因。这些发现为ARB的治疗提供了新的见解，特别是在患有CNV的儿科患者中。
