Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Delhi, Delhi, India.
Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Delhi, Delhi, India
BMJ Case Rep. 2024 Aug 30;17(8):e255434. doi: 10.1136/bcr-2023-255434.
A girl in middle childhood presented with glaucoma in her right eye along with segmental haemangiomas on the right side of the face and neck. Magnetic resonance angiography of the brain showed hypoplasia of the right internal carotid artery, leading to the diagnosis of posterior fossa malformations, haemangioma, arterial anomalies, cardiac defects and eye abnormalities (PHACE) syndrome. High-definition anterior segment ocular coherence tomography (AS-OCT) of the right eye showed an absence of Schlemm's canal and a hyperreflective membrane over the trabecular meshwork. The presence of this angle dysgenesis on AS-OCT, a novel finding in this disease, explained the elevated intraocular pressure in the right eye. The embryological basis for the development of angle dysgenesis might help better understand the pathogenesis of PHACE syndrome.
一位处于童年中期的女孩右眼患有青光眼，右侧面部和颈部有节段性血管瘤。脑部磁共振血管造影显示右侧颈内动脉发育不良，导致后颅窝畸形、血管瘤、动脉异常、心脏缺损和眼部异常（PHACE）综合征的诊断。右眼高清眼前节光学相干断层扫描（AS-OCT）显示 Schlemm 管缺失和小梁网上方有高反射膜。AS-OCT 上存在这种角度发育不良，这是该疾病的一个新发现，解释了右眼眼内压升高的原因。角度发育不良的胚胎学基础可能有助于更好地理解 PHACE 综合征的发病机制。
