先天性无虹膜合并白内障患者的临床特征及手术疗效观察

Clinical characteristics and surgical effect observation of congenital aniridia combined with cataract

目的 分析先天性无虹膜合并白内障患者的临床特征、手术治疗方法及治疗效果.方法 回顾性系列病例研究.收集中山大学中山眼科中心2002年2月至2016年8月间就诊26例先天性无虹膜合并白内障患者的临床资料,分析其临床特点、手术方式选择及预后.比较两组间平均值差异采用两独立样本双尾t检验.结果 26例双眼无虹膜患者中,男、女各13例,平均初诊年龄（8.72±8.06）岁,30.8%（8/26）例有家族遗传史,88.5%（23/26）伴有双眼白内障,11.5%（3/26）伴有单眼白内障,累计收集先天性无虹膜合并白内障49只眼进行分析.患眼白内障形态分类以绕核型24.5%（12/49）,后囊下型22.4%（11/49）,全白内障18.4%（9/49）为主.合并眼球震颤36.7%（18/49）,玻璃体混浊28.6%（14/49）,黄斑发育不良（10/49）,屈光不正、外斜视各12.2%（6/49）,先天性青光眼8.2%（4/49）,内斜视、先天上睑下垂、晶状体异位各4.1%（2/49）,巩膜葡萄肿2.0%（1/49）,视网膜色素变性2.0%（1/49）.30.6%（15/49）眼行白内障摘除术.术后最佳矫正视力≥0.1有93.3%（14/15）;≥0.3有20.0%（3/15）;术后高眼压发生率33.3%（5/15）,重度后发性白内障13.3%（2/15）,脉络膜出血合并脱离6.7%（1/15）.其中80.0%（12/15）眼行超声乳化白内障吸除及白内障注吸联合人晶状体植入术,20.0%（3/12）的术眼因眼部合并症未予植入人工晶体,配戴框架眼镜较正屈光不正.患者首诊时平均角膜曲率为（40.40±2.11）D;平均散光度数为（2.61±2.29）D;CCT为（652.18±106.16）μm;ACD为（3.06±0.98）mm.术前与术后参数比较差异均无统计学意义（P〉0.05）.结论 先天性无虹膜合并白内障患者具有双眼发病及家族遗传倾向,病程多呈进展性,且常因其他合并症影响治疗方式选择及手术预后.

Objective To analyze the clinical manifestations, surgical approaches and postoperative prognosis for the cases of congenital aniridia combined with cataract. Methods In this retrospective case series, 26 patients diagnosed with congenital aniridia combined with cataract were collected from Zhongshan Ophthalmic Center from February 2002 to August 2016. The Clinical data were collected to analyze the clinical features, surgical approaches and postoperative prognosis. T-test was used for statistical analysis. Results Twenty-six bilateral congenital aniridia patients were included in the case series, with 50%male cases. The average age for the first visit was （8.72±8.06） years old. Hereditary patients constitutes 30.8% （8/26） of the total number. The proportions for bilateral and unilateral cataracts were 88.5% （23/26） and 11.5% （3/26） respectively, and 49 eyes suffering from both congenital aniridia and cataract were therefore included in the final analysis. The most common morphology cataract subtypes were lamellar cataract （24.5%, 12/49）, posterior subcapsular cataract （22.4%, 11/49）, and total cataract （18.4%,9/49）. The observed ocular comorbidities included nystagmus （36.7%, 18/49）, vitreous opacity （28.6%, 14/49）, foveal hypoplasia （20.4%, 10/49）, ametropia （12.2%, 6/49）, exotropia （12.2%, 6/49）, congenital glaucoma （12.2%, 6/49）, esotropia （4.1%, 2/49）, congenital ptosis （4.1%, 2/49）, lens ectopia （4.1%, 2/49）, scleral staphyloma （2.0%, 1/49） and pigmentary degeneration of retina （2.0%, 1/49）. 30.6% （15/49） eyes were performed the cataract extraction surgery. The percentage of postoperative best corrected visual acuity （BCVA） for ≥0.1 and ≥0.3 were 93.3% （14/15） and 20.0% （3/15） respectively. Evaluated ocular pressure （33.3%, 5/15）, severe posterior capsular opacification （PCO） （13.3%, 2/15） and choroidal hemorrhage combined with choroidal detachment （6.7%, 1/15） were detected as the postoperative complications. Followed by cataract extraction, 80.0% （12/15） eyes were sequentially performed the intraocular lens implantation, while, 20.0% （3/12） eyes remained aphakia due to ocular comorbidities. Conclusions Congenital aniridia combined with cataract are rare diseases, calling for the precious retrospective researches. This disorder tended to affect both eyes and occurred hereditary. The clinical courses of the cases presented progressive features. Ocular comorbidities were the crucial factors to influence the surgical approaches and postoperative prognosis.