小测试:症状发生前的检查

一位38岁的女性(下方系谱图中第三代第4位)主诉她从十几岁后开始夜盲。她其他方面都很健康。在过去的十年里,她的视力逐渐下降。经初步检查,最佳矫正视力是右眼20/40 (0.5),左眼20/30 (0.67)。裂隙灯检查是正常的。眼底检查显示双眼周边视网膜“骨细胞样”沉积,视盘蜡样苍白,视网膜小动脉变细和黄斑变性。OCT显示黄斑结构变薄,感光细胞内节和外节丢失。她的全视野ERG和多焦ERG成熄灭样,且视野明显缩小。她的眼部表现符合视网膜色素变性。基因检测证实她的一个RHO(视紫红质)基因拷贝有病理性突变。她的父亲 (II:3)、哥哥 (III:3) 和姐姐 (III:2) 也有异常,如家系图所示,并具有相同的突变。 开始测试  

小测试:基因测试

这是一名一岁的女孩,在诊所就诊发现双眼无虹膜症、眼球震颤和牛眼症。她的身体状况良好。她是唯一已知发病的家庭成员。   开始测试  

Lecture: Gene Therapy and Delivery Strategies for AMD and Diabetic Retinopathy

During this live seminar we will discuss gene therapy strategies in clinical trials and on the horizon for patients with both Dry and Wet Age Related Macular Degeneration and Diabetic Retinopathy. We will also review surgical and procedure videos that highlight delivery techniques. Lecturer: Dr. Allen Ho, Attending Surgeon and Director of Retina Research, Wills … Read more

Quiz: Small Eyes & Nystagmus

A 3-year-old boy presented with small eyes and nystagmus. His best-corrected visual acuity is 0.1 (20/200) in both eyes. Horizontal corneal diameters were 7mm bilaterally. Slit-lamp examination showed a 360-degree symmetric iris remnant of approximately 2mm in each eye, mild cortical and posterior subcapsular cataract, and some vitreous coming around the lens into the anterior … Read more

Lecture: Orbis Ocular Genetics Workshop​

During this ocular genetics workshop, funded by a medical education grant from Biogen, various patient cases are reviewed and discussed by a global panel. Panelists: Dr. Alex Levin, Jenina E. Capasso, Dr. Thales A. C. de Guimarães, Dr. Michelle D. Lingao & Dr. Nutsuchar Wangtiraumnuay Transcript [Hunter] It is 7:05 and I realize the world … Read more

Lecture: Stem Cell & Gene Therapy for Ocular Genetic Disease: What Technologies are Already Transforming the Ophthalmic World?

This live webinar will focus on state-of-the-art development of treatment technologies for genetic eye diseases. All subspecialties will benefit from learning about how ocular genetics is (and will be) transforming eye health as well as the patients, families, and communities we serve. A live question and answer session will follow to address clinically relevant pearls … Read more

Quiz: Yellowish Macular Lesions

A 16‑year‑old girl was referred for evaluation of reduced vision in her right eye of 6 months duration. There was no history of ocular trauma and she reported that her left eye was normal. She had no complaints of nyctalopia, photophobia, or other symptoms. The girl was otherwise healthy and denied taking medications of any … Read more