Eyes

• Rieger syndrome
  14 May 2005

  Autosomal dominant malformative disease.
  Types
  Rieger syndrome type 1 (RIEG1)
  Rieger syndrome type 2 (RIEG2)
  Synopsis
  maxillary hypoplasia
  short philtrum
  prominent supraorbital ridges
  iris dysplasia (goniodysgenesis)
  iris hypoplasia
  prominent Schwalbe line (posterior embryotoxon)
  glaucoma
  displaced pupils
  dyscoria
  polycoria
  aniridia
  microcornea
  megalocornea
  strabismus
  broad nasal bridge
  mouth
  thin upper lip
  hypodontia (maxillary (...)

• iris malformations
  14 May 2005

  Etiology (Exemples)
  FOXC1 mutations

• anterior segment malformations
  14 May 2005

  Etiology (Exemples)
  FOXE3 mutations
  FOXC1 mutations

• nystagmus
  14 May 2005

  Etiology (exemples)
  EYA1 mutations

• anterior segment dysgenesis
  13 May 2005

  ASMD, anterior segment mesenchymal dysgenesis

• progressive retinal dystrophy
  13 May 2005

  Etiology (exemples)
  PAX6 mutations

• optic nerves anomalies
  13 May 2005

  Etiology (exemples)
  PAX6 mutations

• corectopia
  13 May 2005

  Etiology (exemples)
  PAX6 mutations

• iris hypoplasia
  13 May 2005

  Etiology (exemples)
  PAX6 mutations

• Peters anomaly
  13 May 2005

  Ocular anomaly characterized by ocular anterior segment dysgenesis and central corneal opacification.
  Etiology (exemples)
  PAX6 mutations
  EYA1 mutations
  FOXE3 mutations
  PITX2 mutations

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