Fujisawa K, Kinoshita K, Tawara A, Inomata H
Department of Ophthalmology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Nippon Ganka Gakkai Zasshi. 1990 Jul;94(7):693-700.
We reported a case of Rubinstein-Taybi syndrome suspected in association with goniodysgenetic glaucoma, and studied using light and electron microscopy the anterior chamber angle tissues obtained surgically by trabeculectomy. The patient was 31-year old male, who had a systemic appearance of Rubinstein-Taybi syndrome with dwarfism, mental retardation, antimongoloid slant, flat-broad based thumbs, low set ears, high arched plate except for whorl of dermatographism. In addition to these malformations, goniodysgenetic glaucoma was also present which is characterized by underdevelopment of the angle recess and invisible ciliary body band in gonioscopic examination. The histopathological studies of the specimens revealed the presence of a compact tissue filled with a large amount of collagen fibers with few cells in the juxta-canalicular tissue of Schlemm's canal. There were 3 to 4 layers of trabecular sheets of corneoscleral meshwork at the anterior chamber side of the compact tissue. We conclude that the presence of the compact tissue under Schlemm's canal represents goniodysgenesis, underdevelopment of the trabecular meshwork, which is the primary cause of the glaucoma in this case.
我们报告了一例疑似与先天性青光眼相关的鲁宾斯坦-泰比综合征病例，并使用光学显微镜和电子显微镜对通过小梁切除术手术获取的前房角组织进行了研究。患者为一名31岁男性，具有鲁宾斯坦-泰比综合征的全身表现，包括侏儒症、智力发育迟缓、内眦赘皮、扁平宽阔的拇指、低位耳、高弓腭，除了皮肤划痕症的涡状纹。除了这些畸形外，还存在先天性青光眼，其特征是在房角镜检查中房角隐窝发育不全且睫状体带不可见。对标本的组织病理学研究显示，在施莱姆管的近小管组织中有一个致密组织，充满大量胶原纤维，细胞很少。在致密组织的前房侧有3至4层角膜巩膜小梁网小梁薄片。我们得出结论，施莱姆管下方致密组织的存在代表房角发育异常，小梁网发育不全，这是该病例青光眼的主要原因。
