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 我们报告1例15岁女性患者，其双眼视力下降，伴眼压升高、房角镜检查示房角关闭。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。超声生物显微镜检查显示睫状体前位、睫状沟缺如，证实为高褶虹膜构型（plateau iris configuration）。光谱域光学相干断层扫描显示双眼囊样黄斑水肿。基因筛查检出克鲁姆同源物1（Crumbs homolog 1, CRB1）基因杂合变异（c.2843G>A及c.2506C>A）。患者接受小梁切除术以控制眼压，并予局部治疗改善黄斑水肿。本病例提示，即便患者年龄较轻，对于前房较浅者亦应行房角镜检查并监测眼压；此外，在条件允许时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的预后及可选治疗方案相关信息。