Eye Center, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, China.
Zhejiang Rongjun Hospital, Jiaxing, 314000, China.
BMC Ophthalmol. 2020 Apr 15;20(1):148. doi: 10.1186/s12886-020-01406-z.
Axenfeld-Rieger syndrome (ARS) is a congenital disease with a series of developmental abnormalities, and no case of ARS with cataract and small cornea has been reported in previous studies. In the present report, we aimed to describe the diagnosis and phacoemulsification of an ARS patient with small cornea.
A 58-year-old Han Chinese male patient who was referred to Eye Center of the Second Affiliated Hospital of Zhejiang University Medical College was diagnosed with ARS. Systemic and ophthalmic examination and genetic testing were performed. The slit-lamp microscopic examination of anterior segment showed obvious nuclear cataract, iris lesions, and the abnormal cornea of both eyes with small transversal and longitudinal diameters. ARS with bilateral complicated cataract and small cornea was diagnosed. Microincision-phacoemulsification in combination with intraocular lens implantation was performed on his left eye. After successful surgery of his left eye, the best-corrected visual acuity (BCVA) was obviously improved from 2 to 0.5 (LogMAR). A transient elevation of intraocular pressure (IOP) was controlled with medication.
Through genetic testing, a known pathogenic mutation NM_153427.2:c.272G > A was detected on the PITX2 gene; and an unknown mutation NM_001453.2:c.1063C > T was detected on FOXC1 gene. For the ARS patient with complicated cataract, the visual acuity was increased by phacoemulsificasion in combination with microincision.
Axenfeld-Rieger 综合征（ARS）是一种先天性疾病，具有一系列发育异常，既往研究中尚无 ARS 合并白内障和小角膜的病例报道。本研究旨在描述 1 例 ARS 伴小角膜患者的诊断和白内障超声乳化术治疗。
患者，男性，58 岁，汉族，因双眼视力下降就诊于浙江大学医学院附属第二医院眼科中心，诊断为 ARS。行全身及眼部检查和基因检测。眼前节裂隙灯显微镜检查示双眼明显核性白内障，虹膜病变，双眼角膜异常，横径和纵径小。诊断为 ARS 合并双眼复杂白内障和小角膜。行左眼微创超声乳化白内障吸除联合人工晶状体植入术。左眼术后视力明显提高，最佳矫正视力（BCVA）由术前的 2 提高至 0.5（LogMAR）。一过性眼压升高，经药物控制。
基因检测发现 PITX2 基因上存在已知致病突变 NM_153427.2:c.272G>A，FOXC1 基因上存在未知突变 NM_001453.2:c.1063C>T。对于合并白内障的 ARS 患者，白内障超声乳化术联合微切口可提高视力。
