Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada; Department of Ophthalmology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada.
J AAPOS. 2022 Jun;26(3):129.e1-129.e7. doi: 10.1016/j.jaapos.2022.01.011. Epub 2022 May 10.
To highlight prevalence, spectrum of anomalies, and outcome of ophthalmic involvement in PHACES syndrome (posterior fossa malformations, infantile hemangiomas, arterial, cardiac, eye, and sternal anomalies).
A retrospective, noncomparative, single-institution observational case series of children with PHACES was conducted from 2000 to 2019. Data on ocular presentations, interventions and visual outcomes were collected. Primary outcome measures were the frequency and spectrum of ocular involvement. Secondary outcomes were final visual acuity, long-term ocular sequelae, and frequency of surgical interventions.
A total of 43 infants had PHACES, of whom 29 (67%) had periocular infantile facial hemangiomas (IFH) and 6 (14%) had primary ocular anomalies that were always ipsilateral to the IFH. Five patients (12%) met ocular PHACES-specific diagnostic criteria, including optic nerve (3), retinal vascular (1) and lenticular (2) anomalies. Non-PHACES-specific abnormalities were Peters anomaly (1), persistent pupillary membranes (2), dysmorphic optic nerves (1), and iris/choroidal hemangiomas (2). IFH-related periocular abnormalities were frequent: ptosis (29), proptosis (9), strabismus (6). Surgery was required in 8 of the 29 children: (strabismus [6], entropion [2], ptosis [2], and optical iridectomy [1]), all of whom had orbital/conjunctival hemangioma (P = 0.03). Final visual acuity (follow-up, 8.7 years) ranged between 20/20 and 20/80 in 26 of 29 patients. All patients with visual acuity worse than 20/200 (3/29 [10%]) had structural anomalies.
Two-thirds of infants with PHACES have periocular IFH causing vision compromising complications of amblyopia and strabismus. Structural ocular anomalies exist in 1 of 7 patients and are always ipsilateral to the IFH. Long-term ophthalmic monitoring and management is required, and the majority of patients obtain good visual outcomes.
强调 PHACES 综合征（后颅窝畸形、婴儿血管瘤、动脉、心脏、眼和胸骨异常）中眼部受累的患病率、异常谱和结局。
回顾性、非对照、单机构观察性病例系列研究，纳入 2000 年至 2019 年期间患有 PHACES 的儿童。收集眼部表现、干预和视觉结果的数据。主要结局指标是眼部受累的频率和范围。次要结局指标是最终视力、长期眼部后遗症和手术干预的频率。
共有 43 名婴儿患有 PHACES，其中 29 名（67%）患有眶周婴儿面部血管瘤（IFH），6 名（14%）患有原发性眼部异常，且均与 IFH 同侧。5 名患者（12%）符合眼部 PHACES 特异性诊断标准，包括视神经（3 例）、视网膜血管（1 例）和晶状体（2 例）异常。非 PHACES 特异性异常包括 Peters 异常（1 例）、持续性瞳孔膜（2 例）、形态异常视神经（1 例）和虹膜/脉络膜血管瘤（2 例）。IFH 相关的眶周异常很常见：上睑下垂（29 例）、眼球突出（9 例）、斜视（6 例）。29 名儿童中有 8 名需要手术：（斜视[6]、内翻[2]、上睑下垂[2]和光学虹膜切除术[1]），所有患者均有眼眶/结膜血管瘤（P = 0.03）。29 例中有 26 例的最终视力（随访 8.7 年）在 20/20 至 20/80 之间。所有视力低于 20/200 的患者（3/29 [10%]）均有结构异常。
PHACES 综合征中三分之二的婴儿有眶周 IFH，导致弱视和斜视的视力受损并发症。7 例中有 1 例存在结构性眼部异常，且始终与 IFH 同侧。需要长期眼科监测和管理，大多数患者可获得良好的视力结果。
