The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis

X-Linked Retinoschisis (XLRS) is a common genetically determined form of macular degeneration affecting young males. XLRS is due to mutations in the RS1 gene located on chromosome Xp22 which codes for retinoschisin and is estimated to affect between 1:5000 to 1:20000 individuals worldwide. We report a case of refractory angle-closure glaucoma in a thirty-nine-year-old Caucasian man with atypical XLRS. The patient presented with a two-day history of left eye pain, acutely reduced vision and a nine-month history of hemicranial pain. Examination identified left intraocular pressure (IOP) of 52mmHg. Gonioscopy confirmed complete angle closure. Following failure of medical management and persistently raised left IOP (43-46mmHg), the patient underwent left phacoemulsification and intraocular lens insertion without complication. After surgery, his IOP reduced to 10-14mmHg on all follow up examinations without the need for glaucoma drops. His iridocorneal angle remained open and vision improved to 20/100. Our case demonstrates the additional role of lens surgery in the treatment of secondary angle-closure glaucoma in the presence of an inherited retinal dystrophy. All patients with inherited retinopathy presenting with a headache or eye pain should undergo gonioscopic examination to exclude angle-closure glaucoma.

X连锁视网膜劈裂症（X-Linked Retinoschisis, XLRS）是一类累及青年男性的常见遗传性黄斑变性亚型。该病由定位于X染色体Xp22区域的RS1基因发生突变引发，该基因编码视网膜劈裂蛋白，据估算全球发病率介于1/5000至1/20000之间。本文报告1例合并非典型X连锁视网膜劈裂症的难治性闭角型青光眼病例，患者为39岁白人男性。患者主诉左眼疼痛、视力急剧下降2天，伴9个月的偏侧头痛病史。眼科检查显示左眼眼内压（intraocular pressure, IOP）达52mmHg，房角镜检查证实完全性房角关闭。经药物治疗无效后，左眼眼内压仍持续维持在43~46mmHg，遂行左眼超声乳化白内障吸除联合人工晶状体植入术，手术过程顺利无并发症。术后随访期间，患者无需使用青光眼滴眼液，眼内压稳定维持在10~14mmHg，虹膜角膜角保持开放，视力提升至20/100。本病例表明，在遗传性视网膜营养不良患者继发闭角型青光眼时，晶状体手术可作为额外的治疗选择。所有因头痛或眼痛就诊的遗传性视网膜病变患者，均应接受房角镜检查以排除闭角型青光眼。