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1 病例简介 先证者男,38岁,自幼双眼视力差,近3年来视力下降 加重,未曾治疗。体检:牙齿、唇及上下颌骨发育异常,全口可 见(?)缺失(已安装义齿),(?)小牙畸形(图1);右耳听力丧 失。眼部检查:视力右眼无光感,左眼0．1矫正至0．6,光定位 不全;眼压:右50．62mmHg,左37．10mmHg;双眼前房中深,周 边1／4CT,瞳孔大,虹膜发育不良,有萎缩孔(图2,3),晶状 体欠清,眼底视盘色淡。左视野呈管状。前房角:Schwalbe线 突出,周边多发前粘连。角膜内皮镜检查:角膜内皮细胞大 小、形态不均,细胞密度:右眼931．6个／mm2,左眼1254．0个／ mm2(正常值1600-4000个／mm2);细胞面积变异系数:右眼 29．0％,左眼30．9％(正常值<30％);六角形细胞百分比:右眼 64％,左眼57％(正常值70％-80％)。诊断:Rieger综合征。
1 case profile proband male, 38 years old, his eyesight poor eyesight, visual acuity decreased in the past three years, has not been treated. Physical examination: Dental, labial and maxillary mandibular dysplasia, full-mouth visible (?) Loss (installed denture), (?) Small tooth deformity (Figure 1); Eye examination: no visual sense of right eye vision, left eye 0.1 correction to 0.6, light positioning incomplete; IOP: right 50.62mmHg, left 37.10mmHg; eyes anterior chamber deep, peripheral 1 / 4CT, Pupil, iris dysplasia, shrinkage hole (Figure 2,3), lens less clear, fundus discolor. Left visual field was tubular. Anterior chamber angle: Schwalbe line prominent around the pre-adhesion. Corneal endoscopy: corneal endothelial cell size, morphology, cell density: right eye 931.6 / mm2, left eye 1254.0 / mm2 (normal 1600-4000 / mm2); cell area coefficient of variation: Right eye 29.0%, left eye 30.9% (normal <30%); hexagonal cell percentage: right eye 64%, left eye 57% (normal 70% -80%). Diagnosis: Rieger syndrome.