P320: Ophthalmologic presentation across subtypes of osteogenesis imperfecta

Osteogenesis Imperfecta (OI) is a rare genetic disorder associated with deviations in collagen production and processing, most frequently arising from variants to the COL1A1 and COL1A2 genes associated with type 1 collagen formation. The most prominent phenotypic presentation of OI is skeletal fragility leading to frequent fractures, skeletal deformity, and poor growth, though there are a variety of other symptoms present in systems throughout the body. Type I collagen is found within many structures in the eye, and previous studies have documented incidences of ocular conditions such as refractive disorders, glaucoma, cataracts, keratoconus, and retinal detachment in persons with OI.