Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations

ABSTRACT We describe the case of a 15-year-old girl with decreased visual acuity associated with elevated intraocular pressure in both eyes and angle closure on gonioscopy. She also presented attenuation of retinal vessels and optic disc pallor with large excavation in the left eye. Ultrasound biomicroscopy revealed an anteriorly positioned ciliary body and absence of ciliary sulcus, confirming the plateau iris configuration. Spectral-domain optical coherence tomography revealed a bilateral cystoid macular edema. Genetic screening revealed heterozygous variants of the Crumbs homolog 1 (CRB1) gene (c.2843G>A and c.2506C>A). The patient underwent trabeculectomy for intraocular pressure control and topical treatment for macular edema. This case highlights the importance of performing gonioscopy and evaluating intraocular pressure in patients with a shallow anterior chamber despite young age. In addition, it also shows the importance of genetic screening, when available, in elucidating the diagnosis and providing patients and their families’ information on the patient’s prognosis and possible therapeutic options.

摘要：本病例报告一例15岁女性患者，表现为双眼视力下降，伴双眼眼压升高，房角镜检查（gonioscopy）提示房角关闭。该患者同时存在视网膜血管变细，左眼视盘苍白伴大范围凹陷。超声生物显微镜（Ultrasound biomicroscopy）检查显示睫状体前位、睫状沟缺失，证实为高褶虹膜构型（plateau iris configuration）。光谱域光学相干断层扫描（Spectral-domain optical coherence tomography）提示双眼黄斑囊样水肿（cystoid macular edema）。基因筛查检出Crumbs同源物1（CRB1）基因的杂合变异（c.2843G>A及c.2506C>A）。患者接受小梁切除术（trabeculectomy）以控制眼压，并辅以局部药物治疗黄斑水肿。本病例提示，对于年轻的浅前房患者，行房角镜检查并监测眼压具有重要临床意义。此外，本病例还表明，在条件允许的情况下开展基因筛查，有助于明确诊断，并为患者及其家属提供患者预后及潜在治疗方案的相关信息。