遗传性视网膜疾病与高近视:一篇评论
Cyndy Liu1, Narin Sheri1, Matthew D Benson1
1Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, AB T6G 2R3, Canada.
Genes
|October 29, 2025
概括
高近视可能是遗传视网膜发育不良症 (IRDs) 的早期迹象,这是一组遗传性眼睛疾病. 认识到这种联系有助于早期的分子诊断和及时的患者护理.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 遗传性视网膜发育不良 (IRDs) 是一种影响视网膜功能的单源性疾病.
- 高近视是各种IRD的频繁临床表现.
- 识别高近视作为诊断线索可以促进IRDs的早期检测.
研究的目的:
- 审查和总结单基性IRD和高近视之间的关联.
- 引导临床医生为IRD和高近视患者建立分子诊断.
- 巩固有关涉及高近视性IRDs的基因的知识.
主要方法:
- 在PubMed,ScienceDirect和JAMA网络的综合文献综述.
- 确定将单一性IRD与高近视相联系的研究.
- 根据相关基因的功能对相关基因进行分类.
主要成果:
- 与IRD和高近视相关的基因分为以下几类:原/结构完整性,光传导/视觉循环,状细胞贩运,突触信号传递和与相关的基因.
- 这种关联跨越静止和渐进的视网膜疾病,影响了杆和圆功能.
- 与高近视相结合的近视和光恐症等症状增加了对IRD的怀疑.
结论:
- 高近视是一种重要的临床特征,需要对潜在的IRD进行调查.
- 通过分子方法进行早期诊断可以通过遗传咨询和临床试验访问来改善患者的结果.
- 了解基因集群可以了解高近视性IRD的病理生理学.
相关概念视频
Photoreceptors and Visual Pathways
8.7K
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,...
8.7K
Glaucoma: Overview
1.2K
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
1.2K
Focusing of Light in the Eye
5.3K
Light rays enter the eye through the cornea, a transparent dome-shaped tissue that is the eye's outermost layer. The cornea bends or refracts, light rays traveling to the pupil. The shape of the cornea determines how much of the light is bent and whether the image will be focused correctly on the retina at the back of the eye. Once the light has passed through both refraction layers, it converges into a single focal point onto a small area. This is where photoreceptors start transforming...
5.3K
The Retinoblastoma Gene
4.7K
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,...
4.7K


