在Stargardt疾病的视觉敏度课程
Jeroen A A H Pas1, Dyon Valkenburg1, Catherina H Z Li1
1From the Department of Ophthalmology (J.A.A.H.P., D.V., C.H.Z.L., P.P.A.D., C.B.H.), Radboud University Medical Center, Nijmegen, the Netherlands; Cognitive Neuroscience Department, Donders Institute for Brain, Cognition and Behaviour (J.A.A.H.P., D.V., C.H.Z.L., R.W.J.C., P.P.A.D., C.B.H.), Radboud University Medical Center, Nijmegen, the Netherlands.
American journal of ophthalmology
|July 27, 2025
概括
斯塔格特病1型的视力敏度下降是非线性的,并且根据发病年龄而异. 样本大小使得视力敏度成为临床试验中不切实际的初级终点.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 临床研究 临床研究
背景情况:
- 斯塔格特病1型是一种遗传性视网膜疾病,导致逐渐视力丧失.
- 了解视力敏度下降的自然史对于临床试验设计至关重要.
研究的目的:
- 为了建模视觉敏度下降的非线性进展在Stargardt病类型1.
- 根据发病年龄,评估衰退率的变化.
- 评估视力敏度作为临床试验中主要终点的适用性.
主要方法:
- 追溯性自然史研究涉及327名基因确诊的斯塔格特病1型患者.
- 视力敏度数据 (斯内伦/ETDRS图表) 转换为LogMAR进行分析.
- 在早期,中期和晚期发病群体中,西格曲线建模以表示非线性视力敏度下降.
主要成果:
- 视力敏度下降率因疾病阶段而异,最高为0.3 LogMAR (0.227 LogMAR/年).
- 早期发病和晚期发病组的下降率明显高于中期发病组 (P < .001).
- 样本大小计算表明,需要139名患者参加为期3年的试验,治疗效果为80%,假设0.3LogMAR初始视力敏度.
结论:
- 斯塔格特病1型的视力敏度下降遵循一个非线性轨迹,受发病年龄的影响.
- 实质性样本大小的要求使视敏度作为临床试验的主要终点变得不切实际.
- 开发的模型为患者提供了关于疾病进展的咨询提供了宝贵的工具.
相关概念视频
01:28Angle Closure Glaucoma: Treatment
691
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...
691
01:25Glaucoma: Overview
770
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...
770
01:27Open Angle Glaucoma: Treatment
577
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...
577
01:22Photoreceptors and Visual Pathways
6.5K
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,...
6.5K
01:12Visual Agnosia
304
Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round...
304