在马赛克RASopathies中复杂的表皮膜和角膜胆固醇瘤
Saipriya Potluri1,2,3, Brian Grodecki1,3,4, Hannah Scanga1,3,5
1UPMC Children's Eye Center, Pittsburgh, PA.
Cornea
|November 6, 2025
概括
在马赛克中的眼球胆固醇瘤RASopathies经常存在结膜和膜延伸. 早期识别和复杂的管理,包括抗VEGF治疗和角膜移植,对这些患者至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
背景情况:
- 马赛克RAS病变是一种遗传疾病,具有多种不同的临床表现.
- 眼球胆固醇瘤是一种罕见的先天性瘤,可以影响视力.
- 了解RAS病变和眼部表现之间的联系对于诊断和管理至关重要.
研究的目的:
- 鉴定马赛克RAS病症患者眼球胆固醇瘤的临床特征.
- 详细介绍这些复杂案例所采用的管理策略.
- 根据眼科发现,提高对马赛克RAS病的诊断意识.
主要方法:
- 对被诊断患有马赛克RASopathies的患者进行了回顾性单中心病例审查.
- 眼镜成像的全面分析,包括手术显微镜,裂纹灯和OCT.
- 在相关基因中对致病变体的分子确认.
主要成果:
- 评估了9名患有马赛克RASopathies的患者 (包括线性脂质神经综合征,眼皮外皮综合征和脑皮皮质脂质症).
- 14只眼睛表现出眼球胆固醇,通常是平的,高度血管化,并延伸到结膜和膜.
- 在6个分子确诊病例中,在6个病例中发现了致病性KRAS基因变异.
结论:
- 带有结膜/膜延伸和角膜血管化的眼球胆固醇瘤表明马赛克RASopathy.
- 管理是复杂的,涉及光学虹膜切除术,抗VEGF治疗,折射纠正和潜在的角膜移植.
- 这些发现强调了眼科评估在诊断和管理马赛克RASopathies的重要性.
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