1 Chapter 31 Osteogenesis Imperfecta and the Eye Copyright © 2014 Elsevier Inc. All rights reserved.

2 FIGURE 31.1 Schematic of the eye.

3 Copyright © 2014 Elsevier Inc. All rights reserved. FIGURE 31.2 Pedigree of primary open angle glaucoma and OI type I multiplex family from Duke University Eye Center. Darkly shaded subjects have primary open angle glaucoma. Subjects without shading do not have glaucoma. OI patients are labeled. In the second generation, all OI patients also had glaucoma.

4 Copyright © 2014 Elsevier Inc. All rights reserved. FIGURE 31.3 Glaucomatous optic neuropathy and visual fi eld loss in an OI type I patient from Duke University Eye Center. Aside from the normal, physiologic “blind spot” (dark oval on right side of image, more darkly shaded regions in the visual field correspond to decreased peripheral vision (left). The corresponding optic nerve head has increased cupping characteristic of glaucoma (right). This figure is reproduced in color in the color plate section.

5 Copyright © 2014 Elsevier Inc. All rights reserved. FIGURE 31.4 Rhegmatogenous retinal detachment (RRD) in an OI type I patient from University of Illinois at Chicago, Illinois Eye and Ear Infirmary. This patient had bilateral RRDs. The left eye is shown here with blue sclera (upper left). The RRD was detected on B-scan ultrasonography (upper middle), involved the inferior retina on fundus photography (upper right), and was also detected by spectral domain optical coherence tomography (bottom). This figure is reproduced in color in the color plate section.