Chan C C, Green W R, de la Cruz Z C, Hillis A
Arch Ophthalmol. 1982 Sep;100(9):1458-63. doi: 10.1001/archopht.1982.01030040437014.
Osteogenesis imperfecta is a rare, inherited, connective-tissue disorder. The three main signs of this disease are multiple bone fractures, blue scleras, and deafness (osteosclerotic type). In our research, only a few reports of the morphologic studies of the eyes of patients with osteogenesis imperfecta were found. This report describes the ocular histopathologic condition of four cases of osteogenesis imperfecta congenita, with emphasis on the ultrastructural characteristics of the collagen in the cornea and sclera.
成骨不全症是一种罕见的遗传性结缔组织疾病。该疾病的三个主要体征为多发性骨折、蓝色巩膜和耳聋(骨硬化型)。在我们的研究中,仅发现少数关于成骨不全症患者眼部形态学研究的报告。本报告描述了4例先天性成骨不全症患者的眼部组织病理学情况,重点关注角膜和巩膜中胶原蛋白的超微结构特征。