Conditions / Eye

anterior segment dysgenesis 5

info ยท Eye

An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.

Signs and symptoms

  • Strabismus
  • Microcornea
  • Nystagmus
  • Posterior embryotoxon
  • Developmental cataract
  • Anterior synechiae of the anterior chamber
  • Rieger anomaly
  • Hypoplasia of the fovea
  • Reduced visual acuity
  • Microphthalmia