在PHACE综合征中与发育性玻璃眼瘤的体内角度异位发生
Toshit Varshney1, Sai Vineeth Maddu1, Kanchangouri Satpute1
1Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Delhi, Delhi, India.
BMJ case reports
|August 30, 2024
概括
后腔形,血管瘤,动脉异常,心脏缺陷和眼睛异常 (PHACE) 综合征被诊断为患有青光眼的儿童. 通过前段眼相干断层扫描识别的角度异位,可能解释PHACE综合征中的青光眼.
科学领域:
- 眼科医生 眼科 眼科
- 儿科 儿科 儿科
- 医学遗传学 医学遗传学
背景情况:
- 后腔形,血管瘤,动脉异常,心脏缺陷和眼睛异常 (PHACE) 综合征是一种罕见的多系统性疾病.
- 玻璃眼瘤是已知的PHACE综合征的眼部表现,但其特定的病原性仍然不清楚.
研究的目的:
- 为了研究诊断为PHACE综合征的儿童的眼睛发现.
- 通过使用先进的成像技术,阐明PHACE综合征中青光瘤发展的潜在机制.
主要方法:
- 临床检查和神经成像 (磁共振血管造影) 用于PHACE综合征诊断.
- 高清前段眼相干断层扫描 (AS-OCT) 用于详细检查受影响眼睛的前腔角度.
主要成果:
- 该患者出现了右侧玻璃眼和面部血管瘤,与PHACE综合征一致.
- AS-OCT 检测显示了施莱姆运河的缺失,以及在椎网格上覆盖的超反射膜,这表明了角异位.
- 这种角度异位产生为这种PHACE综合征病例中眼内压力升高提供了新的解释.
结论:
- 以特定的AS-OCT发现为特征的角度异构,是PHACE综合征中青光眼的潜在原因.
- 了解角度异构的胚胎学基础,可能会为PHACE综合征的更广泛的病变产生提供见解.
- AS-OCT是诊断儿科绿内障与复杂综合征相关的微妙角度异常的宝贵工具.
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