PRPS1相关的视网膜病变:一个诊断奥德赛
Tariq A Alzahem1,2, Abdulwahab AlTheeb1, Rola Ba-Abbad1
1Ocular Genetics Service, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Ophthalmic genetics
|April 15, 2024
概括
在患有视力和听力损失的患者中,阿舍尔综合征的诊断被修改为PRPS1相关的视网膜病变和Charcot-Marie-Tooth疾病5型. 基因检测和临床发现对于准确诊断至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 眼科医生 眼科 眼科
- 神经学 神经学
背景情况:
- 阿舍氏综合征是一种遗传性疾病,其特点是听力损失和渐进的视力损失.
- 对阿舍尔综合征的遗传测试小组通常针对已知的致病基因.
相关概念视频
Photoreceptors and Visual Pathways
8.5K
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,...
8.5K
Diabetic Retinopathy
55
DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
55


