Article ; Online: Association of osteogenesis imperfecta and glaucoma: case report.
2022 Volume 44, Issue 5, Page(s) 475–479
Abstract: 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 ( ... ...
Abstract | 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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MeSH term(s) | Male ; Humans ; Middle Aged ; Adult ; Osteogenesis Imperfecta/complications ; Osteogenesis Imperfecta/genetics ; Osteogenesis Imperfecta/pathology ; Collagen Type I, alpha 1 Chain ; Collagen Type I/genetics ; Collagen/genetics ; Glaucoma/genetics ; Mutation |
Chemical Substances | Collagen Type I, alpha 1 Chain ; Collagen Type I ; Collagen (9007-34-5) |
Language | English |
Publishing date | 2022-10-28 |
Publishing country | England |
Document type | Case Reports ; Journal Article |
ZDB-ID | 1199279-7 |
ISSN | 1744-5094 ; 0167-6784 ; 1381-6810 |
ISSN (online) | 1744-5094 |
ISSN | 0167-6784 ; 1381-6810 |
DOI | 10.1080/13816810.2022.2138454 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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