在一个患有鲁宾斯坦-泰比综合征的新生儿中,一种异常呈现的青光瘤
Brajesh Lahri1, Renu Singh2, Shikha Gupta1
1Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Ophthalmic genetics
|October 29, 2024
概括
鲁宾斯坦-泰比综合征 (RTS) 可以呈现为单边,新生儿发作的先天性玻璃眼. 这种罕见的疾病涉及虹膜角膜粘附,需要控制眼内压力 (IOP).
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 鲁宾斯坦-泰比综合征 (RTS) 是一种罕见的遗传疾病,与特有的面部特征,智力障碍和骨异常有关.
- 在RTS的眼部表现是多样化的,但先天性玻璃眼通常没有报告.
研究的目的:
- 为了记录一个患有鲁宾斯坦-泰比综合征的婴儿单边,新生儿发作的先天性玻璃眼病的病例.
- 要突出与RTS相关的潜在的,尽管罕见的眼部并发症.
主要方法:
- 一个临床案例展示了一个15天大的男婴,其特征暗示RTS.
- 进行了包括超声波生物显微镜在内的眼科检查.
- 基因分析在CREBBP基因中发现了一种新的致病变体.
主要成果:
- 这名婴儿患有单侧 (左眼) 先天性玻璃眼,其特征是角膜扩大,角膜雾和血管化.
- 超声波生物显微镜检测出虹膜缩,虹膜角膜粘附以及对白内障透镜的粘附.
- 在CREBBP基因中发现了一种新型的新型异构性致病变体.
结论:
- 单侧新生儿发作的先天性玻璃眼,特别是带有虹膜膜粘附,可能是鲁宾斯坦-泰比综合征的罕见表现.
- 在受影响的婴儿中,早期诊断和眼内压力 (IOP) 的管理至关重要.
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