Aim To evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia. Methods 45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study. Whole-exome sequencing identified the causative mutation. Examinations included slit-lamp biomicroscopy, in vivo confocal microscopy, Ocular Surface Disease Index (OSDI) score, blink rate, Schirmer I test, Oxford Staining Score (OSS), tear film break-up time (TFBUT) and Ocular Protection Index (OPI). Results There were age-dependent increases in OSDI (β=0.34, 95% CI 0.03 to 0.66; p=0.030), blink rate (β=0.18, 95% CI 0.08 to 0.27; p<0.001) and OSS (β=0.05, 95% CI 0.03 to 0.07; p<0.001) and age-dependent reductions in tear production (β=−0.23, 95% CI −0.43 to 0.02; p=0.029) and TFBUT (β=−0.10, 95% CI −0.17 to –0.04; p<0.001). Perturbed OSDI, OSS, blink rate, tear production and TFBUT were noted after the age of ten and OSDI, OSS, blink rate and TFBUT correlated with deficient corneal nerves and limbal stem cell function. OSDI, blink rate, Schirmer, OSS, TFBUT and OPI were not associated with type of PAX6 mutation, but OSDI, OSS and blink rate associated with grade of aniridia-associated keratopathy. Conclusions Ocular surface damage and dry eye signs appear in congenital aniridia regardless of mutation, appearing after 10 years of age and progressing thereafter. An early treatment window may exist for therapies to protect the ocular surface homoeostasis and limbal function, to possibly delay keratopathy development and progression. All data relevant to the study are included in the article or uploaded as online supplemental information.

中文翻译：

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先天性无虹膜的早期眼表和泪膜状态表明支持性治疗窗口


目的 评估先天性无虹膜患者眼表和泪膜随年龄和突变状态的变化。方法 对 45 名患有先天性无虹膜的参与者（89 只眼睛）进行前瞻性横断面研究。全外显子组测序确定了致病突变。检查包括裂隙灯生物显微镜检查、体内共聚焦显微镜检查、眼表面疾病指数 (OSDI) 评分、眨眼率、Schirmer I 测试、牛津染色评分 (OSS)、泪膜破裂时间 (TFBUT) 和眼部保护指数 (OPI) ）。结果 OSDI（β=0.34，95% CI 0.03 至 0.66；p=0.030）、眨眼率（β=0.18，95% CI 0.08 至 0.27；p<0.001）和 OSS（β=0.05）均随年龄增加。 ，95% CI 0.03 至 0.07；p<0.001）和年龄依赖性泪液产生减少（β=-0.23，95% CI -0.43 至 0.02；p=0.029）和 TFBUT（β=-0.10，95% CI - 0.17 至 –0.04；p<0.001)。十岁后，人们注意到 OSDI、OSS、眨眼率、泪液产生和 TFBUT 受到干扰，并且 OSDI、OSS、眨眼率和 TFBUT 与角膜神经和角膜缘干细胞功能缺陷相关。 OSDI、眨眼率、Schirmer、OSS、TFBUT 和 OPI 与 PAX6 突变类型无关，但 OSDI、OSS 和眨眼率与无虹膜相关角膜病变的级别相关。结论 无论突变如何，先天性无虹膜症都会出现眼表损伤和干眼症状，10 岁后出现并随后进展。保护眼表稳态和角膜缘功能的治疗可能存在早期治疗窗口，从而可能延缓角膜病的发生和进展。与研究相关的所有数据都包含在文章中或作为在线补充信息上传。