Hallermann-Streiff综合征继发青光眼:病例系列报告与文献回顾

Glaucoma in Hallermann-Streiff syndrome:case series report and literature review

目的:分析Hallermann-Streiff综合征(Hallermann-Streiff syndrome,HSS)继发性青光眼的临床表现,探讨其治疗方法。方法:采用病例系列研究与文献回顾方法,记录3例确诊为HSS继发性青光眼患者的视力、眼压、裂隙灯、超声生物显微镜、相干光断层扫描、角膜地形图、A超、B超、X线眼眶大小测量等检查结果。随访患者药物治疗、周边虹膜切除术、小梁切除术或青光眼阀植入术的疗效。结果:3例患者年龄分别为9、29和47岁,其中女性2例、男性1例。最佳矫正视力为0.04-0.5,平均屈光度为+12.1 D,平均眼压为37.7 mm Hg,平均角膜直径为9.1 mm,平均中央前房深度为2.43 mm,平均眼轴长度为18.13 mm,角膜地形图示平均K1值为56.97 D,平均K2值为60.65 D。眼眶水平径为28.86~31.40 mm,垂直径为30.16~32.90mm。2例年轻患者为无晶状体眼,伴葡萄膜炎、瞳孔区纤维膜、视盘旁脉络膜萎缩弧。年长患者表现为蓝色巩膜、白内障、房角关闭,眼底表现为青光眼性视杯凹陷。3例患者平均身高143cm,伴头发及眉毛稀疏、额头前凸、鼻子呈喙状、牙齿发育不全、下颌发育不全。术后平均随访47.7个月(范围:11~84个月),眼压控制,视力与术前一致,无治疗相关并发症出现。结论:HSS继发性青光眼的眼部病变可表现为小眼眶、小眼球、小角膜、蓝色巩膜、无晶状体、瞳孔区纤维膜、葡萄膜炎、继发性青光眼及视盘旁脉络膜萎缩。对HSS继发性青光眼的患者,个性化地选择治疗方案,可以获得较好的治疗效果。

Objective:To demonstrate the clinical characteristics and surgical effects of glaucoma in Hallermann-Streiff syndrome(HSS).Methods:Observational case series and literature review.The results of ophthalmic examinations of three patients diagnosed as glaucoma with HSS were recorded,including visual acuity,intraocular pressure(IOP),slitlamp microscopy,ultrasound biomicroscopy,optical coherence tomography,corneal topography,A-scan and B-scan ultrasonography,and orbital size measurement by X-ray.Peripheral iridectomy,glaucoma drainage device implantation or trabeculectomy,were performed in these patients.Results:Three HSS patients were 9,29 and 47 years old,respectively,including 2 females and 1 male.The best corrected visual acuity was 0.04-0.5.The mean spherical equivalent refraction was+12.1 D.The average IOP was 37.7 mm Hg,and the average corneal diameter was 9.1 mm.The average central anterior chamber depth was 2.43 mm.The average axial length was 18.13mm.Keratometry showed average K1 of 56.97 degrees,and K2 of 60.65 degrees.Two younger patients were aphakic bilaterally with uveitis,pupillary fibrous membrane and peripapillary choroidal atrophy.The older patient showed blue sclera,cataract,and anterior chamber angle closure.The horizontal orbital diameter was 28.76-31.40 mm,and vertical orbital diameter was 30.16-32.90 mm.All patients were proportionate nanism,with an average height of 143 cm.Craniofacial manifestations included dyscephalia and“bird-like”face,hypotrichosis,dental anomalies,and mandibular hypoplasia.They were followed up for an average of 47.7 months(range:11-84 months)after surgery.The IOPs were all controlled,and the visual acuities remained unchanged.No treatment-related complications occurred.Conclusions:HSS patients with glaucoma may present as small orbit,microphthalmia,microcornea,blue sclera,aphakia,pupillary fibrous membrane,uveitis,with atrophic chorioretinal changes.For these patients,personalized treatment may help to achieve better therapeutic effects.