两个兄弟的连续中央视网膜动脉封闭:预防失明的斗争
David Oliver-Gutierrez1, Olaia Subirà2, Ana Zabalza3,4
1Ophthalmology, Hospital Universitari Vall d'Hebron, Barcelona, Spain. davidoliguti@gmail.com.
Documenta ophthalmologica. Advances in ophthalmology
|February 11, 2025
概括
年轻患者中枢视网膜动脉封闭 (CRAO) 可能表明罕见的遗传疾病,如DADA2. 这份报告详细介绍了两名兄弟在CRAO出现后被诊断患有DADA2,强调了在无法解释的血管病例中需要进行基因测试的必要性.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 类风湿病学 类风湿病学
背景情况:
- 中央视网膜动脉封闭 (CRAO) 通常在患有心血管风险因素的老年人中观察到.
- 年轻的CRAO患者没有传统的风险因素,需要对罕见的遗传疾病进行调查.
- 氨酸脱氨酶2缺乏症 (DADA2) 是一种罕见的血管性疾病,可以出现血管封闭.
研究的目的:
- 在年轻的兄弟中报告了两例CRAO病例.
- 突出了鉴定DADA2.2的诊断挑战.
- 强调对罕见的血管性疾病进行基因检测的重要性,如CRAO.
主要方法:
- 案例报告的两个兄弟与CRAO.
- 广泛的诊断工作包括血液检测,成像和自身免疫面板.
- 基因检测用于识别CECR1基因中的突变.
主要成果:
- 两位兄弟,年龄分别为34岁和32岁,在八年间隔的时间内出现了CRAO,没有显著的先前病史.
- 最初的广泛评估没有揭示CRAO的常见原因.
- 基因检测证实了CECR1基因的同卵性突变,在两名患者中诊断出DADA2.
结论:
- 患有不明原因的CRAO的年轻患者应该被评估是否患有像DADA2.2这样的遗传疾病.
- 由于表现变化,DADA2诊断可能具有挑战性,最初可能呈现为CRAO.
- 早期诊断和使用TNF抑制剂的治疗对于预防DADA2的视力丧失和系统性并发症至关重要.
相关概念视频
01:20The Retinoblastoma Gene
4.0K
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,...
4.0K
01:22Photoreceptors and Visual Pathways
5.6K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
5.6K