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anterior segment mesenchymal dysgenesis (anterior segment ocular dysgenesis)
Etiology:
Conditions falling within the phenotypic spectrum of anterior segment mesenchymal dysgenesis include:
1) aniridia
2) posterior embryotoxon
3) Axenfeld anomaly
4) Reiger anomaly/syndrome
5) Peters anomaly
6) iridogoniodysgenesis
Pathology:
- developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, & other components of the anterior chamber during eye development
- all malformations involving
a) 1st (corneal endothelium & trabecular meshwork)
b) 2nd (corneal stroma)
c) 3rd (iris stroma)
- mesenchymal waves of neural crest
Genetics:
- associated with defects in FOXE3 gene
- associated with defects in PITX3
Clinical manifestations:
- corneal opacities with or without iris adhesions in 100%
- cataracts of varying severity in 100%
- optic-nerve abnormalities in 20% of affected individuals
Complications:
- mature anterior segment anomalies are associated with an increased risk of glaucoma & corneal opacity
General
genetic disease of the eye
congenital anomaly (birth defect)
Database Correlations
OMIM 107250
References
OMIM :accession 107250