密码:相关的综合征和遗传性疾病
Daphna Landau-Prat1,2,3,4,5, Diana H Kim1,2, Sana Bautista1,2
1Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ophthalmic genetics
|July 26, 2023
概括
密码,一种罕见的先天性眼异常,通常与遗传综合征有关. 这项研究在77%的患者中确定了遗传诊断,突出了弗雷泽综合征和与CELSR2变异的潜在联系.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
背景情况:
- 密码眼 (Cryptophthalmos) 是一种罕见的先天性疾病,其特点是眼发育异常,眼无法形成或分离.
- 它可以单方面或双边表现,并且可以独立发生或作为更广泛的遗传综合征的一部分.
研究的目的:
- 为了识别和描述与密码石相关的遗传综合征.
- 帮助对患有这种罕见疾病的患者进行遗传诊断.
主要方法:
- 对2000年至2020年期间被诊断患有密码的患者的医疗记录进行了回顾性审查.
- 分析包括患者病史,临床发现和遗传检测结果.
主要成果:
- 分析了13名患者,77%是男性,平均年龄为2.4岁.
- 8名患者 (61%) 患有双边密码,4名患者 (31%) 患有完全密码.
- 在77%的病例中发现了遗传诊断,包括弗雷泽综合征 (5例),胎盘综合征 (1例),FREM1相关疾病 (1例),Goldenhar-Schimmelpenning综合征 (1例),MOTA综合征 (1例) 和CELSR2相关疾病 (1例).
结论:
- 这项研究报告了cryptopthalmos和双 CELSR2 变体之间的潜在关联.
- 建议对患有密码眼的儿童进行全面的遗传评估,特别是那些有眼外表现的儿童.
相关概念视频
01:22Photoreceptors and Visual Pathways
6.1K
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,...
6.1K
01:25Glaucoma: Overview
623
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...
623
01:11Genetic Lingo
103.2K
Overview
103.2K
01:28Angle Closure Glaucoma: Treatment
565
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...
565
01:43Sex-linked Disorders
102.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.4K
01:17Accessory Structures of the Eye
1.6K
Optical perception, or vision, is an extraordinary sense dependent on converting light signals received via the ocular organs. These organs, known as eyes, are securely positioned within the bony cavities of the skull, called orbits. The orbits serve a dual purpose: a protective shield for the ocular globes and a stable attachment point for the soft ocular tissues. The eye's external protective mechanisms include the eyelids, which are edged with lashes that act as a barrier against foreign...
1.6K