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Sclero-cornea and defective mesodermal migration
The British Journal of Ophthalmology
|November 1, 1975
Summary
This case study details a rare bilateral sclero-cornea with systemic abnormalities in an infant. Histopathology revealed severe corneal and anterior segment developmental defects, suggesting an early embryogenesis error.
Area of Science:
- Ophthalmology
- Developmental Biology
- Genetics
Background:
- Bilateral sclero-cornea is a rare congenital condition.
- Associated systemic abnormalities can occur.
- Normal karyotype in affected infants is possible.
Purpose of the Study:
- To describe the histopathological findings of a unique case of bilateral sclero-cornea.
- To investigate the potential underlying cause of the severe ocular malformations.
Main Methods:
- Histopathological examination of an enucleated eye.
- Clinical assessment of systemic abnormalities.
- Karyotyping.
Main Results:
- The eye showed an irregular corneal epithelium, absent Bowman's and Descemet's membranes, and vascularized stroma.
- Absence of angle structures, iris/ciliary body hypoplasia, and kerato-iridic adhesions were noted.
- The infant had multiple systemic abnormalities but a normal karyotype.
Conclusions:
- A profound defect in early embryogenesis, specifically defective mesodermal migration, is postulated.
- This defect likely underlies the severe ocular and systemic malformations observed.
- Further research into early mesodermal development is warranted.
