在儿科视网膜变症中视网膜血管扩散性瘤
Arif O Khan1, Aniruddha Agarwal1
1Ophthalmology, Integrated Surgical Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio.
概括
视网膜血管扩散性瘤 (RVPTs) 可能发生在患有遗传视网膜变症的儿童中. 早期识别和管理至关重要,以防止诸如新血管绿内障之类的并发症.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学是一种遗传学.
- 儿科 儿科 儿科
背景情况:
- 视网膜血管扩散性瘤 (RVPTs) 是一种罕见的眼部疾病.
- 自体递归视网膜变是一种影响视力的一组遗传性疾病.
- 儿科患者的RVPTs与特定遗传视网膜变症之间的关联尚未得到充分证实.
研究的目的:
- 记录基因确诊的自体递归视网膜变症儿童的RVPT病例.
- 描述这些病例的临床表现,管理和结果.
- 强调在儿科视网膜发育不良症的背景下承认RVPT的重要性.
主要方法:
- 案例系列方法.
- 自体递归视网膜变症的遗传确认 (CEP290,ABCA4,MYO7A).
- 眼科检查,成像和临床随访.
主要成果:
- 三名不相关的女孩 (13-14岁) 经过遗传确认的视网膜发育不良,被诊断患有RVPTs.
- 两个病例 (CEP290相关的朱伯特综合征,ABCA4相关的斯塔格特病) 呈现出单边,无症状,稳定的病变.
- 一个病例 (与MYO7A相关的阿舍尔综合征) 呈现出单边的RVPT,导致排泄性视网膜脱落,新血管玻璃瘤和眼睛疼痛.
结论:
- 在儿童中,RVPTs可能与各种自体递归视网膜变症有关.
- 虽然一些RVPT可能会保持稳定,但其他可能会导致严重的并发症,如排泄性视网膜脱落和新血管玻璃眼.
- 在患有视网膜发育不良的儿科患者中,迅速诊断和对RVPT的警监测对于适当的管理和视觉保存至关重要.
更多相关视频
12:28Quantification of Vascular Parameters in Whole Mount Retinas of Mice with Non-Proliferative and Proliferative Retinopathies
Published on: March 12, 2022
4.4K
07:43Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model
Published on: August 5, 2021
2.4K
相关概念视频
01:20The Retinoblastoma Gene
4.9K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.9K
01:20The Retinoblastoma Gene
2.8K
2.8K