[马兰综合征的眼部表现:一个病例报告]
1Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Yinchuan 750002, China.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
|February 5, 2026
概括
患有马兰综合征的儿童通常会因为视神经缩而失去视力. 早期的眼科评估和干预对于保护视力和改善生活质量至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 马兰综合征是一种罕见的遗传疾病.
- 马兰综合征的眼部表现会导致明显的视力损伤.
研究的目的:
- 报告一个严重视力障碍的马兰综合征病例.
- 突出综合眼科评估在受影响的儿童的重要性.
主要方法:
- 一个有马兰综合征的6岁男孩的病例报告.
- 眼科检查包括视觉敏,瞳孔光反射,眼底镜检查,光学连贯性断层扫描 (OCT),场电网红图 (ERG) 和闪光视觉唤起潜力 (VEP).
主要成果:
- 这位患者出现了视力低下,夜间失明和双侧眼膜瘤.
- OCT显示了视网膜神经纤维和质细胞层的稀薄.
- ERG显示棒和功能受损,VEP显示视神经缩.
结论:
- 马兰综合征可以导致渐进的视神经缩和视力丧失.
- 全面的眼科评估对于早期诊断和管理至关重要.
- 及时的干预可以帮助最大限度地提高残留视力,提高患者的适应能力.
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