带有PRDM5新突变的2型脆角膜综合征中的先天性玻璃眼
Rashmi Krishnamurthy1, Sirisha Senthil1, Jeyapoorani Balasubramanian2
1VST Glaucoma Centre, L V Prasad Eye Institute, Hyderabad, India.
概括
脆角膜综合征2型,是一种罕见的遗传性疾病,可以出现先天性玻璃眼和角质球. 基因检测对于早期诊断和个性化治疗这种疾病至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 结合组织疾病 结合组织疾病
背景情况:
- 脆角膜综合征2型 (BCS2) 的特征是角膜变薄,关节过度运动,骨异常,骨脆弱和听力损失.
- PRDM5基因与BCS2有关,影响着原蛋白的产生和结缔组织的完整性.
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