Zonulopathies as Genetic Disorders of the Extracellular Matrix
2024
Zonulopathies as Genetic Disorders of the Extracellular Matrix
publication
Evidence: moderate
Author Information
Author(s): Chipeta Chimwemwe, Aragon-Martin Jose, Chandra Aman
Hypothesis
Zonulopathies are primarily genetic disorders affecting the extracellular matrix, particularly involving fibrillin-1.
Conclusion
Genetic disorders causing ectopia lentis are numerous and often involve disruptions to fibrillin-1, leading to zonular weakness.
Supporting Evidence
- Zonulopathies can lead to lens dislocation, which is often the first sign of a systemic condition like Marfan syndrome.
- Genetic variants affecting fibrillin-1 are the predominant cause of ectopia lentis.
- Patients with ectopia lentis often require careful monitoring for associated systemic conditions.
Takeaway
Some eye problems are caused by genes that affect the stretchy parts of the eye, which can lead to lens dislocation.
Limitations
The review does not account for anterior segment dysgeneses as a cause for ectopia lentis.
Digital Object Identifier (DOI)
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