Ocular findings in osteogenesis imperfecta congenita.
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.
D003315:Cornea / Q000473:pathology / Q000648:ultrastructure; D005123:Eye / Q000473:pathology* / Q000648:ultrastructure; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D010013:Osteogenesis Imperfecta / Q000151:congenital / Q000473:pathology*; D012590:Sclera / Q000473:pathology / Q000648:ultrastructure