角膜脆弱综合征1例  

A case of brittle cornea syndrome 1

作　　者：林青鸿 周行涛 LIN Qinghong;ZHOU Xingtao(Department of Ophthalmology,Eye&ENT Hospital,Fudan university,Shanghai 200031,China)

机构地区：[1]复旦大学附属眼耳鼻喉科医院眼科,上海200031

出　　处：《中国眼耳鼻喉科杂志》2025年第S1期38-43,48,共7页Chinese Journal of Ophthalmology and Otorhinolaryngology

摘　　要：38岁男性,因“左眼视力显著下降半年”就诊。患者4岁时右眼外伤性眼球破裂,行右眼眼球摘除。左眼裸眼视力FC/30 cm,眼压13.5 mmHg(1 mmHg=0.133 kPa),眼轴长度28.59 mm。裂隙灯提示左眼角膜厚度变薄前凸,角膜上方后弹力层瘢痕;Pentacam角膜地形图和前节OCT显示角膜球形扩张,最薄点厚度为160μm。角膜前表面对称性差,且曲率增高至64.2 D,后表面高度21μm,初步诊断为圆锥角膜。进一步眼底照相和后节OCT检查发现患者左眼黄斑出血,体型矮胖,小关节过度活动和反复肩关节脱臼。追问病史得知患者父母亲为近亲结婚,曾祖母也进行过眼球摘除,因此推测可能是遗传性的全身结缔组织病变。对患者进一步补充X线片、CT等全身检查,并对患者及其家庭成员进行全外显子组测序,测序结果提示患者携带ZNF469基因的纯合移码突变,最终诊断为角膜脆弱综合征1亚型。讨论体会:圆锥角膜可能会掩盖患者其他的症状或体征,不能忽视其他眼部和全身的检查以及病史的完善,基因检测可以为临床上疑难病例的诊断提供有力佐证。A 38 year old male was hospitalized because of significantly decreased visual acuity in his left eye for half a year.At the age of 4,the patient had a traumatic rupture of the right eye and underwent enucleation of the right eye.The uncorrected visual acuity of the left eye was FC/30 cm,the intraocular pressure was 13.5mmHg(1mmHg=0.133kPa),and the axial length was 28.59 mm.Slit lamp showed a thinned and protruded cornea with a scar in the Descemet’s membrane in the superior half of the left cornea.Pentacam and anterior segment optical coherence tomography showed spherical expansion of the cornea with a thinnest point of 160μm in thickness.The symmetry of the anterior surface of the cornea was poor,and the curvature was as high as 64.2 D,and the height of the posterior surface was 21μm.Thus,the initial diagnosis was keratoconus.Further fundus photography and posterior segment OCT examination showed that the patient had macular hemorrhage in the left eye.Furthermore,a short and stout stature,hypermobility of small joints and repeated shoulder dislocations was collected from this patient’s medical history.Additionally,it is worth noting that the patient’s parents have a consanguineous marriage,and her great grandmother also had an eye enucleation.Therefore,it was presumed that it might be a hereditary systemic connective tissue disease.Further supplemented X-ray,CT and other systemic examinations,and whole exome sequencing(WES)were performed on the patient and his family members.The sequencing results suggested that the patient carried a homozygous frameshift mutation of ZNF469 gene,and was finally diagnosed as brittle cornea syndrome 1(BCS1).Discussion and experience:keratoconus may cover up other symptoms or signs of patients,detailed ocular and systemic examinations and medical history cannot be ignored.Genetic testing can provide strong evidence for the diagnosis of difficult cases in clinic.

关 键 词：圆锥角膜 全外显子组测序 角膜脆弱综合征 

分 类 号：R73[医药卫生—肿瘤]