Purpose: Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital disorder typified by localized or generalized cutaneous vascular anomalies, which dissipate over time. We review the diagnostic approach to CMTC and present a comprehensive examination of its ocular manifestations. Additionally, we offer recommendations for the ophthalmologic workup for patients with CMTC. Finally, we examine the possible causes of CMTC and summarize the current efforts to establish an etiologic mechanism for this disease.

Methods: Thirty-three published cases of CMTC with ocular anomalies are examined in detail.

Results: CMTC is diagnosed based on a specific set of congenital cutaneous symptoms, principally congenital reticular erythema that is unresponsive to local warming and absence of venectasia within the skin lesions. Ocular findings are not currently employed in this diagnostic process, likely due to an incomplete understanding into their presentation, frequency, and natural history. We show that the majority of ophthalmic manifestations are congenital, with glaucoma and posterior segment anomalies, consisting of retinal perfusion defects and vascular abnormalities, as the most frequently reported findings. Typical ophthalmic medical and surgical interventions appear to be effective for management of these CMTC-related pathology. Unfortunately, the etiology and pathophysiology of CMTC remains unknown, which obfuscates efforts to identify, examine, and initiate treatment in patients.

Conclusions: While the ophthalmic community has traditionally viewed glaucoma as the classic ocular anomaly of CMTC, this dataset advocates for the prompt investigation of posterior segment abnormalities as well. However, our understanding of CMTC’s ocular anomalies is complicated by a lack of reporting and/or incomplete (or nonexistent) ophthalmic examinations, and we strongly encourage comprehensive ophthalmic examinations for all CMTC patients at the time of diagnosis, followed by appropriate screening and surveillance throughout life. We believe these recommendations will spur additional data and disease insights that may be useful for future refinements to CMTC diagnostic algorithms.

目的：先天性皮肤角质层皮炎（CMTC）是一种罕见的先天性疾病，以局部或全身性皮肤血管异常为特征，并随时间消散。我们回顾了CMTC的诊断方法，并对其眼部表现进行了全面检查。此外，我们为CMTC患者的眼科检查提供建议。最后，我们检查了CMTC的可能原因，并总结了目前为建立该病的病因机制所做的努力。

方法：对33例已发表的眼部异常CMTC病例进行详细检查。

结果：根据一组特定的先天性皮肤症状（主要是先天性网状红斑）诊断CMTC，该先天性网状红斑对局部变暖无反应，并且皮肤病变内无通气孔。目前在该诊断过程中未使用眼部检查结果，这可能是由于对它们的表现，频率和自然病程的理解不完整。我们显示大多数眼科表现是先天性的，青光眼和后节异常，包括视网膜灌注缺陷和血管异常，是最常报告的发现。典型的眼科医学和外科手术干预措施似乎可以有效地治疗这些与CMTC相关的病理。不幸的是，CMTC的病因学和病理生理学仍然未知，这混淆了识别，检查，

结论：虽然眼科界传统上将青光眼视为CMTC的经典眼部异常，但该数据集还提倡对后段异常进行迅速调查。但是，由于缺乏报告和/或不完整（或不存在）眼科检查，我们对CMTC眼部异常的了解变得复杂，我们强烈建议在诊断时对所有CMTC患者进行全面的眼科检查，然后在整个过程中进行适当的筛查和监测生活。我们相信这些建议将激发更多的数据和疾病见解，这可能对将来完善CMTC诊断算法很有用。