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Updated: Feb 15, 2026
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A Murine Model of Ischemic Retinal Injury Induced by Transient Bilateral Common Carotid Artery Occlusion
Published on: November 12, 2020
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Bilateral giant retinal tears in Osteogenesis Imperfecta
Paolo Scollo1, Martin Paul Snead2, Allan James Richards2
1Vitreoretinal Service, Addenbrooke's Hospital, Cambridge University NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK. paolo.scollo@cantab.net.
BMC Medical Genetics
|January 14, 2018
Summary
Osteogenesis imperfecta (OI) subtype VIII, a rare recessive condition, presents a high risk for bilateral giant retinal tears due to P3H1 gene mutations affecting collagen. Early genetic analysis is crucial for managing this rare OI complication.
Area of Science:
- Ophthalmology
- Genetics
- Connective Tissue Diseases
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder affecting connective tissues, primarily due to mutations in COL1A1 and COL1A2 genes.
- While multiple genetic subtypes of OI are known, the risk of retinal tears and detachments in OI patients remains under-researched.
- Type I collagen is the main component of bones, ligaments, and sclerae, and its defective formation in OI leads to tissue abnormalities.
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