Library Topic: Genetics
Lecture: Clinical Clues in Diagnosis and New Drug Discovery for Inherited Retinal Degeneration
In this webinar, Dr. Amir Hajrasouliha will cover topics related to diagnosis, symptoms, and treatment of inherited retinal degeneration, and share his clinical perspectives. Dr. Yoshikazu Imanishi will cover topics related to contemporary ideas of small molecule therapies for inherited retinal degeneration and share his perspectives as a basic scientist. Primary focus will be given … Read more
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