Association of osteogenesis imperfecta and glaucoma: case report

Background Osteogenesis imperfecta (OI) is an inherited disorder characterized by bone fragility. Type I OI is the most common type of OI, and is autosomal dominantly-inherited. Type I OI develops due to pathogenic variants in the collagen 1 Alpha 1 (COL1A1) gene on chromosome 17. Collagen proteins are important components of the extracellular matrix of the trabecular meshwork, Schlemm's canal, and lamina cribrosa, which play a role in the development of glaucoma. Purpose To report a father and his daughter who were diagnosed with glaucoma and OI type I. Materials and Methods Case report Results A 58-year-old man and his 31-year-old daughter were diagnosed with OI type 1 [NM_000088.4 (COL1A1): c.3008del (p.Pro1003fs)]. In addition, both subjects had glaucomatous optic neuropathy. Conclusions In this report, we presented a pathogenic variant in a father and his daughter with OI and coexisting glaucoma. The abnormalities in collagen may contribute to the risk of glaucoma development in patients with COL1A1-associated OI. Therefore, screening for glaucoma may be indicated when caring for patients with this diagnosis.