眼内 Amyloidosis 呈现二次绿眼病:一个临床病理学报告和文献综述
Joseph B Lin1, James C Liu1, Rajendra S Apte1,2
1Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, USA.
American journal of ophthalmology case reports
|January 6, 2026
概括
眼内粉样化症可以导致二次光眼,即使没有典型的症状或家族病史. 早期活检对于诊断这种罕见的疾病至关重要,这种疾病通常与TTR基因突变有关.
科学领域:
- 眼科医生 眼科 眼科
- 病理学 病理学 病理学
- 遗传学 遗传学 是一个
背景情况:
- 眼内粉样化症是一种罕见的病症,粉样蛋白沉积在眼睛组织中.
- 它可以呈现为二次眼,往往对标准治疗无反应.
- 由于不典型的表现,诊断可能具有挑战性.
研究的目的:
- 描述一个眼内粉样性瘤病例,呈现为二次绿眼病.
- 要突出临床表现和病理发现.
- 审查文献并讨论诊断方面的挑战.
主要方法:
- 一个72岁的男性患有医学上难以治疗的眼内压的病例报告.
- 眼部检查显示了玻璃体的不透明性.
- 水性幽默活检是无诊断的;帕斯普拉纳玻璃切除术确定了粉样蛋白聚合物.
- 质谱测量证实了跨素类型粉样蛋白 (ATTR).
主要成果:
- 这位患者出现了由于玻璃性粉样化症引起的二次绿内障.
- 鉴定了ATTR粉样蛋白,与跨胺素 (TTR) 基因突变有关.
- 患者没有家族病史或全身性粉样性粉症的迹象,使诊断复杂化.
结论:
- 在耐火性玻璃眼病病例中,应该怀疑眼内粉样化症,即使前部片段不显著.
- 玻璃性粉症通常与遗传TTR突变有关,无论家族病史或全身症状如何.
- 建议对眼部活检进行低值的诊断.
相关概念视频
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
Open Angle Glaucoma: Treatment
953
In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...
Drugs such as carbonic anhydrase inhibitors, α2- and...
953
Angle Closure Glaucoma: Treatment
1.1K
Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
1.1K


