anterior segment mesenchymal dysgenesis (anterior segment ocular dysgenesis)

Etiology

Conditions falling within the phenotypic spectrum of anterior segment mesenchymal dysgenesis include:

• aniridia
• posterior embryotoxon
• Axenfeld anomaly
• Reiger anomaly/syndrome
• Peters anomaly
• 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
  • 1st (corneal endothelium & trabecular meshwork)
  • 2nd (corneal stroma)
  • 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

More general terms

• genetic disease of the eye
• congenital anomaly (birth defect)

Database

• OMIM: https://mirror.omim.org/entry/107250