Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Megurao-ku, Tokyo, Japan.
Cornea. 2012 Mar;31(3):293-8. doi: 10.1097/ICO.0b013e31820cd2ab.
Anterior segment dysgenesis is one of the main causes of congenital corneal opacities. In this study, we investigated the clinical features and visual outcomes of patients with anterior segment dysgenesis in a large number of cases.
The medical records of patients with congenital corneal opacities in relation to anterior segment dysgenesis seen in the National Center for Child Health and Development, Japan, between April 2002 and October 2009, were retrospectively studied.
Records of 220 eyes of 139 patients were reviewed. Mean follow-up period was 5 years. Clinical diagnoses were Peters anomaly (72.7%), anterior staphyloma (11.4%), Rieger anomaly (7.7%), sclerocornea (6.4%), and others (1.8%). Visual acuity was measured in 61 patients. The best-corrected visual acuity in the better eye of bilaterally involved patients was 20/60 to 20/1000 (low vision according to the International Classification of Diseases, Ninth Revision, Clinical Modification) in 43.2% and less than 20/1000 (legally blind) in 24.3%. Fundus examination was performed in 82 eyes, and disorders were seen in 12 (12 of 82; 14.6%). Systemic abnormalities were present in 35 patients (35 of 139; 25.2%); a family history was present in 5 patients (5 of 139; 3.6%). Of the 160 eyes of 109 patients with Peters anomaly, 51 patients (51 of 109; 46.8%) had bilateral Peters anomaly, 30 (30 of 109; 27.5%) had fellow eyes that were normal, and 28 (28 of 109, 25.7%) showed other abnormal ocular findings in the fellow eye.
Anterior segment dysgenesis shows diverse clinical features, various severities of corneal opacities, and visual outcomes. Further understanding of the disease as an abnormality during embryogenesis and neural crest cell differentiations may be required.
眼前段发育不良是先天性角膜混浊的主要原因之一。在这项研究中，我们调查了大量眼前段发育不良患者的临床特征和视力结果。
回顾性研究了 2002 年 4 月至 2009 年 10 月期间在日本国立儿童健康与发展中心就诊的先天性角膜混浊伴眼前段发育不良患者的病历。
共分析了 139 例患者 220 只眼的病历。平均随访时间为 5 年。临床诊断为 Peters 异常（72.7%）、前葡萄肿（11.4%）、Rieger 异常（7.7%）、硬化性角膜（6.4%）和其他（1.8%）。对 61 例患者进行了视力检查。双侧受累患者的健眼最佳矫正视力为 20/60 至 20/1000（根据国际疾病分类，第九版，临床修正版为低视力）占 43.2%，小于 20/1000（法定盲）占 24.3%。对 82 只眼进行了眼底检查，其中 12 只眼（12/82；14.6%）有异常。35 例患者（35/139；25.2%）存在系统性异常，5 例患者（5/139；3.6%）有家族史。在 160 只眼的 109 例 Peters 异常患者中，51 只眼（51/109；46.8%）为双侧 Peters 异常，30 只眼（30/109；27.5%）为对侧眼正常，28 只眼（28/109；25.7%）对侧眼有其他异常眼部表现。
眼前段发育不良表现出多种临床特征、不同程度的角膜混浊和视力结果。可能需要进一步了解这种疾病作为胚胎发生和神经嵴细胞分化过程中的一种异常。
