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Article

Association of osteogenesis imperfecta and glaucoma: case report.

Ophthalmic genetics - 1 Oct 2023

Alpogan Oksan

Abstract excerpt

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...

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Identifiers

PMID: 36305178
DOI: 10.1080/13816810.2022.2138454

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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