在波雷蒂-博尔特豪泽综合征中表性玻璃色素变异与Coats-Like反应
Serena Shah1, Natasha Ferreira Santos da Cruz1, Francisco Lopez-Font1
1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Journal of vitreoretinal diseases
|November 14, 2024
概括
这项研究详细介绍了一个与LAMA1基因突变相关的视网膜排泄的独特案例,证实了Poretti-Boltshauser综合征. 这种情况在治疗和管理方面带来了挑战.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 医学案例报告 病例报告
背景情况:
- 波雷蒂-博尔特豪泽综合征是一种罕见的遗传疾病.
- 视网膜排泄可以模仿其他疾病,如科茨病.
相关概念视频
Glaucoma: Overview
508
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...
508
COP Coated Vesicles
7.7K
Membrane-enclosed structures called vesicles transport proteins and lipids across the cell. The vesicles derive their cargo from the plasma membrane, Golgi, ER, or endosome. Coated vesicles are spherical, protein-coated carriers with a 50–100 nm diameter that mediate bidirectional transport between the ER and the Golgi. The distribution of proteins between the ER and Golgi complex is dynamic and is maintained by different coated vesicles. Their formation is driven by the assembly of...
7.7K
Coat Assembly and GTPases
3.5K
Vesicles incorporate different coat protein subunits in different cell locations, which changes the properties of the coat, such as the shape and geometry of the transport vesicles. Thus, vesicle coat proteins also play a significant role in cargo selection.
Coat assembly depends on the local availability of phosphatidylinositol phosphates or PIPs and GTP-binding proteins. Adaptor proteins, which link the coat proteins to the membrane, bind to these PIPs and play a crucial role in controlling...
Coat assembly depends on the local availability of phosphatidylinositol phosphates or PIPs and GTP-binding proteins. Adaptor proteins, which link the coat proteins to the membrane, bind to these PIPs and play a crucial role in controlling...
3.5K


