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Weill-Marchesani syndrome in three generations
C Evereklioglu1, I F Hepsen, H Er
1Department of Ophthalmology, Turgut Ozal Medical Centre, Inönü University, Malatya, Turkey. evereklioglu@hotmail.com
Eye (London, England)
|March 9, 2000
Summary
Weill-Marchesani syndrome, a rare connective tissue disorder, can present with early vitreous liquefaction and asymmetrical axial length, potentially indicating glaucoma risk. Early diagnosis in families is crucial for timely intervention.
Area of Science:
- Ophthalmology
- Genetics
- Connective Tissue Diseases
Background:
- Weill-Marchesani syndrome is a rare systemic connective tissue disorder characterized by brachymorphy, brachydactyly, ectopia lentis, spherophakia, and glaucoma.
- This study investigates the largest family reported to date with an autosomal dominant inheritance pattern of Weill-Marchesani syndrome.
Observation:
- Screening of 26 family members identified 6 affected individuals across three generations, with varying ocular involvement.
- Presenile vitreous liquefaction was observed in all younger patients.
- Asymmetrical axial length and glaucomatous damage were noted in severe cases within the third generation.
Findings:
- This is the first report detailing asymmetrical axial length, glaucomatous damage, and presenile vitreous liquefaction in Weill-Marchesani syndrome.
- Longer axial length may precede severe glaucomatous damage.
Implications:
- Presenile vitreous liquefaction in young individuals may serve as an early indicator for Weill-Marchesani syndrome.
- Family screening is recommended upon identifying subtle signs to detect the disorder and potential ocular complications early.