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Related Experiment Videos

The cornea in connective tissue diseases.

I H Maumenee

    Ophthalmology
    |October 1, 1978
    PubMed
    Summary

    Marfan syndrome causes significant corneal abnormalities, including flattening and astigmatism. Conjunctival biopsies offer diagnostic insights into storage diseases and potential causes of keratoconus.

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    Retinal detachment in Marfan syndrome.

    Retina (Philadelphia, Pa.)·2000

    Area of Science:

    • Ophthalmology
    • Genetics
    • Biochemistry

    Background:

    • Marfan syndrome typically presents with lenticular and retinal issues.
    • Corneal abnormalities, such as flattening and astigmatism, are also significant in Marfan syndrome.
    • Understanding ocular collagen is crucial for eye diseases.

    Observation:

    • Conjunctival biopsies provide diagnostic information on storage diseases.
    • Electron microscopy reveals ectopic collagen in some keratoconus cases.
    • Further research is needed on ocular collagen development and pathology.

    Findings:

    • Conjunctival biopsies are minimally invasive with high diagnostic yield for storage diseases.
    • Ectopic collagen is implicated as a potential cause of keratoconus.
    • Detailed collagen characterization in the human eye is essential.

    Implications:

    • This research enhances understanding of Marfan syndrome's ocular manifestations.
    • Findings may lead to improved diagnostics for storage diseases and keratoconus.
    • Future studies on ocular collagen could illuminate causes of myopia and retinal detachment.

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