常染色体隐性遗传性卵黄样营养不良并发闭角型青光眼临床特征分析

目的 总结常染色体隐性遗传性卵黄样营养不良（ARB）并发闭角型青光眼（ACG）/房角关闭（AC）患者的临床特征。设计 回顾性病例系列。研究对象 2017-2019年中山眼科中心经基因检测确诊ARB并发ACG/AC患者8例16眼。方法 回顾分析ARB并发ACG/AC患者临床发病特点、眼部改变。主要指标 发病特点，眼部生物学参数，视网膜、视神经及视功能改变。结果 ARB并发ACG/AC患者年龄15~34岁，平均（26.13±6.77）岁。男女各4例。最佳矫正视力0.1~0.8；眼压15~45 mmHg，平均（28.81±8.03）mmHg。平均前房深度（2.09±0.14）mm，平均眼轴（21.85±0.65）mm。房角关闭范围>180°者13眼，其平均垂直杯盘比（C/D） （0.9±0.10），平均视网膜神经纤维层厚度（62.53±149.06）μm，平均视野缺损值（-21.02±12.02）dB。房角关闭范围<180°者3眼，其平均垂直C/D（0.4±0.06），平均视网膜神经纤维层厚度（117±1.73）μm，平均视野缺损值（-5.56±1.53）dB。所有患眼眼底显示后极部多发大小不一、数量不等的视网膜下黄色物质沉积。相干光断层扫描显示后极部视网膜神经上皮层广泛浆液性浅脱离，光感受器外节延长，视网膜色素上皮层与Bruch膜间多灶大小不等高反射沉积物质。12眼（75%）视网膜层间劈裂腔形成，1眼局灶脉络膜下陷。8例眼电图（EOG）光峰／暗谷值（Ardent比）<1.55。结论 ARB并发ACG/AC患者发病年龄较轻，双眼房角狭窄或关闭同时伴有眼底散在卵黄样病灶及后极部视网膜神经上皮层广泛浆液性浅脱离。（眼科， 2020, 29： 370-374）

Clinical characteristics of autosomal recessive bestrophinopathy associated with angle-closure glaucoma

Objective To study the clinical features of autosomal recessive bestrophinopathy (ARB) associated with angle-closure glaucoma(ACG) or angle closure(AC). Design Retrospective case series. Participants Sixteen eyes of 8 patients who were identified of ARB associated with ACG/AC with genetic testing at the Zhongshan Ophthalmic Center from 2017 to 2019. Methods The clinic data, ocular biological parameters, fundus image and visual function were analyzed. Main Outcome Measures The clinic features and characteristics of ocular biological parameter measurement, retinal and optic nerve changes and visual function changes. Results The mean age of ARB-related ACG/AC patients was 26.13±6.77 years-old (15~34 years-old). The best corrected visual acuity ranged from 0.1 to 0.8, and the average intraocular pressure (IOP) was 28.81±8.03 (15~45) mmHg. The average anterior chamber depth (ACD) was 2.09±0.14 mm, and the average axial lengths (AL) was 21.85 ± 0.65 mm. The closed range of anterior chamber angle was over 180 degrees in 13 eyes, and the mean vertical cup to disc ratio (C/D), the average retinal nerve fibre layer (RNFL) thickness and the mean visual field defect value (MD) was 0.9±0.10, 62.53±149.06 μm and 21.02 ±12.02 dB, respectively. The closed range of anterior chamber angle was less than 180° in 3 eyes, and the mean vertical C/D, the average RNFL thickness and the MD was 0.4±0.06, 117±1.73 μm, and -5.56±1.53 dB, respectively. Multiple subretinal yellow substance deposits of different sizes and quantities were distributed in the posterior pole. All of the patients showed extensive serous retinal detachment and extension of photoreceptor outer segment in the posterior pole，and hyper-reflection between the sub-retinal pigment epithelium space were found by SD-OCT image. Twelve eyes (75%) showed intraretinal schisis, focal choroidal excavation (FCE) was found in one eye. EOG Arden ratio was below 1.55 in all patients. Conclusion The onset age of ARB with ACG/AC patients are younger than primary angle-closure glaucoma. Bilateral narrow or closed anterior chamber angle accompanied with scattered vitelliform retinopathy and extensive serous retinal detachment in the posterior pole is the characteristics of ARB with ACG/AC patients. （Ophthalmol CHN, 2020, 29: 370-374）