关键词: 眼疾病, 遗传性；视网膜疾病；青光眼, 闭角型

Abstract: 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）

Key words: eye diseases, hereditary, retinal diseases, glaucoma, angel-closure