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Abstract #106179 Published in IGR 23-3
Association of osteogenesis imperfecta and glaucoma: case report
Alpogan OOphthalmic Genetics 2022; 0: 1-5
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.
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