Osteogenesis Imperfecta and the Eye

While the many skeletal, auditory, dental and other anomalies in osteogenesis imperfecta (OI) have been well documented in the medical literature, the eye and the visual system are also commonly affected in patients with OI. As type I collagen fibers are also found in ocular structures including the cornea and sclera, eyes in OI patients may have corneal thinning and blue sclerae to different degrees related to the severity of altered type I collagen synthesis as a result of OI. More severe ocular and visual system problems may also be related to OI and lead to significant visual impairment. Ocular and visual pathway problems reported in OI patients include corneal disorders, glaucoma, retinal detachment, optic neuropathy and others. This chapter provides an overview of the range of eye and vision-related pathologies found in patients with OI. This chapter (1) reviews the basic anatomy of the eye and visual system for background, (2) provides a literature review of case reports, case series and clinical studies that relate to the eye and visual pathways in OI, (3) shares results from an eye survey of OI patients from the Kennedy Krieger Institute and (4) makes general recommendations regarding eye care for OI patients.