Zhong Yimin, Guo Xinxing, Xiao Hui, Luo Jingyi, Zuo Chengguo, Huang Xiaobo, Huang Jingjing, Mi Lan, Zhang Qingjiong, Liu Xing
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China.
PLoS One. 2017 Jan 5;12(1):e0169395. doi: 10.1371/journal.pone.0169395. eCollection 2017.
Trabeculectomy has been regarded as a mainstay of initial treatment in eyes of angle closure glaucoma (ACG) with peripheral anterior synechia > 180° in the Chinese population while its efficacy in secondary ACG with BEST1 gene mutation remains unclear. We set out to investigate the treatment outcome of trabeculectomy for secondary ACG in a group of patients with autosomal recessive bestrophinopathy (ARB).
In this retrospective case series study, 8 secondary ACG patients with ARB and their 4 recruited family members underwent a thorough ophthalmic examination including best-corrected visual acuity, Goldmann applanation tonometry, gonioscopy, and fundus examinations. Ultrasound biomicroscopy, optical coherence tomography (OCT), ultrasound A-scan, B-scan, electro-oculography (EOG), Humphrey perimetry, fundus photography, fundus fluorescein angiography (FFA) and indocyanine green angiography (ICGA) were also performed. Blood samples were obtained in the patients and their available family members to analyze the variants of the BEST1 gene. Trabeculectomy was performed in the 8 patients (15 eyes).
The age of onset varied from 13 to 38 years. The average axial length (AL) of the affected eyes was 21.82 ± 0.92 mm and the average anterior chamber depth (ACD) was 2.19 ± 0.29 mm. There was marked axial shallowing of the anterior chamber in all 15 eyes after trabeculectomy, and was not improved with potent mydriatics. The IOP was elevated in 3 eyes. Variable degree of yellowish subretinal deposits was observed in the posterior retina. The FFA showed punctuate or patched hyperfluorescence suggesting retinal pigment epithelium impairment. The ICGA demonstrated dilatation of choroidal vessels. The OCT revealed diffused neuroretinal detachment in the posterior and midperipheral retina, with intraretinal fluid collections, and hyperreflective subretinal accumulations. The average subfoveal choroidal thickness of the patients was 382.36 ± 80.09 μm. All the patients and enrolled family members carried mutation in BEST1 gene.
ARB is a rare condition with fundus manifestations mimicking various diseases. Careful discrimination should be taken to exclude any secondary causes for ACG before treatment. Concerning the high incidence of postoperative shallow anterior chamber, selection of filtering surgery should be very careful in these patients.
在中国人群中，小梁切除术一直被视为原发性闭角型青光眼（ACG）且周边前粘连>180°患者初始治疗的主要手段，而其在伴有BEST1基因突变的继发性ACG中的疗效尚不清楚。我们旨在研究小梁切除术治疗一组常染色体隐性遗传性Bestrophin病（ARB）患者继发性ACG的治疗效果。
在这项回顾性病例系列研究中，8例患有ARB的继发性ACG患者及其4名招募的家庭成员接受了全面的眼科检查，包括最佳矫正视力、Goldmann压平眼压测量、前房角镜检查和眼底检查。还进行了超声生物显微镜检查、光学相干断层扫描（OCT）、超声A扫描、B扫描、眼电图（EOG）、Humphrey视野检查、眼底照相、眼底荧光血管造影（FFA）和吲哚菁绿血管造影（ICGA）。采集患者及其可获得的家庭成员的血样，以分析BEST1基因的变异情况。对8例患者（15只眼）实施了小梁切除术。
发病年龄在13至38岁之间。患眼的平均眼轴长度（AL）为21.82±0.92mm，平均前房深度（ACD）为2.19±0.29mm。小梁切除术后所有15只眼均出现明显的前房轴深变浅，强效散瞳剂不能改善。3只眼眼压升高。在后极视网膜观察到不同程度的淡黄色视网膜下沉积物。FFA显示点状或斑片状高荧光，提示视网膜色素上皮损害。ICGA显示脉络膜血管扩张。OCT显示后极和中周边视网膜弥漫性神经视网膜脱离，伴有视网膜内液体积聚和高反射性视网膜下积聚。患者的平均黄斑下脉络膜厚度为382.36±80.09μm。所有患者及其纳入研究的家庭成员均携带BEST1基因突变。
ARB是一种罕见疾病，眼底表现可模仿多种疾病。治疗前应仔细鉴别以排除ACG的任何继发原因。鉴于术后浅前房发生率高，对这些患者选择滤过性手术时应非常谨慎。
