Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA.
Cornea. 2011 Aug;30(8):939-44. doi: 10.1097/ICO.0b013e31820156a9.
Peters anomaly is a rare dramatic finding at birth and can be associated with other systemic malformations. We performed a literature review of multiple case reports and case series to better define the common characteristics and unusual findings associated with Peters anomaly.
A representative case is discussed followed by a literature review of multiple case reports and case series. The literature search was conducted for the years 1969 to 2009. Cases and case series were included in the review of published English ophthalmic literature. Cases were excluded if no information was reported on ocular and systemic malformations or if no information was reported on surgical interventions or outcomes. In addition, if cases did not report laterality of the lesion, they were excluded from the review. Fifty-eight cases were found that fit the above criteria, and the relevant cases were reviewed to better characterize the systemic malformations, interventions, and outcomes associated with Peters anomaly reported in the literature.
Fifty-eight cases of Peters anomaly were reviewed. Of those cases reporting sex, 56% were men and 44% of cases were women. In terms of laterality, 67.2% of cases were bilateral versus 32.8% of cases that were unilateral. Moreover, bilateral cases of Peters anomaly were associated with a higher rate of systemic malformations (71.8%) versus unilateral Peters anomaly (36.8%). This difference was significant (P < 0.03 by Fischer exact test). In the 15 eyes where results of penetrating keratoplasty were reported, the overall success rate was 53%. However, the success rate was significantly higher in patients with Peters anomaly type I (87.5%), as opposed to those patients with Peters anomaly type II (14.2%) (P < 0.02 by Fischer exact test).
The clinical features, epidemiology, genetics, complications, and treatments of Peters anomaly are presented. Cornea specialists who care for pediatric patients should be aware of the common and uncommon associations with Peters anomaly. Although bilateral Peters anomaly is much more commonly associated with systemic malformations, we believe that all patients with Peters anomaly should be screened for systemic malformations by both pediatricians and geneticists and undergo chromosomal analysis and molecular genetic testing.
彼得斯异常是一种罕见的出生时的显著表现，可能与其他全身性畸形有关。我们对多个病例报告和病例系列进行了文献回顾，以更好地定义与彼得斯异常相关的常见特征和不常见发现。
我们讨论了一个有代表性的病例，然后对多个病例报告和病例系列进行了文献回顾。文献检索的时间范围为 1969 年至 2009 年。我们将病例纳入发表的英文眼科文献中进行综述，如果没有报告眼部和全身性畸形的信息，或者没有报告手术干预或结果的信息，则排除病例。此外，如果病例没有报告病变的侧别，则将其从综述中排除。我们发现了 58 例符合上述标准的病例，并对相关病例进行了回顾，以更好地描述文献中报道的与彼得斯异常相关的全身性畸形、干预措施和结果。
我们回顾了 58 例彼得斯异常病例。在报告性别的病例中，56%为男性，44%为女性。在侧别方面，67.2%的病例为双侧，32.8%的病例为单侧。此外，双侧彼得斯异常与更高的全身性畸形发生率相关（71.8%），而单侧彼得斯异常的发生率较低（36.8%）。这种差异具有统计学意义（Fisher 确切检验，P < 0.03）。在 15 只报告了穿透性角膜移植术结果的眼中，总体成功率为 53%。然而，彼得斯异常 I 型患者的成功率明显更高（87.5%），而彼得斯异常 II 型患者的成功率较低（14.2%）（Fisher 确切检验，P < 0.02）。
我们介绍了彼得斯异常的临床特征、流行病学、遗传学、并发症和治疗方法。治疗儿童患者的角膜专家应该了解彼得斯异常的常见和不常见的关联。尽管双侧彼得斯异常更常与全身性畸形相关，但我们认为所有彼得斯异常患者都应由儿科医生和遗传学家进行全身性畸形筛查，并进行染色体分析和分子遗传学检测。
