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The eye in the Marfan syndrome
Transactions of the American Ophthalmological Society
|January 1, 1981
Summary
Marfan syndrome primarily affects the eyes due to scleral stretching, causing globe enlargement and lens dislocation. Ocular issues in Marfan syndrome patients show intrafamilial consistency, suggesting genetic factors.
Area of Science:
- Ophthalmology
- Genetics
- Connective Tissue Diseases
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue.
- Ocular, cardiovascular, and skeletal abnormalities are common in Marfan syndrome.
- Understanding the ocular manifestations is crucial for patient management.
Observation:
- Reviewed 160 Marfan syndrome patients for ocular, cardiovascular, and skeletal abnormalities.
- Assessed severity of abnormalities and correlated ocular findings with systemic features.
- Examined corneal shape, globe size, and lens dislocation prevalence.
Findings:
- Globe enlargement due to scleral stretching was the primary ocular finding.
- Lens dislocation occurred in 193 eyes, correlated with increased axial length.
- No correlation found between ocular and systemic (skeletal, cardiovascular) findings.
- Intrafamilial consistency in ocular pathology suggests genetic influence.
Implications:
- Scleral stretching is a key factor in Marfan syndrome ocular pathology.
- Multiple point mutations may explain varied Marfan syndrome phenotypes.
- Further research into genetic mutations is warranted for Marfan syndrome.