[MIM 206 900]

The prevalence is estimated at 1/250,000. Mutation or point deletion of the SOX2 gene (3q26 - q27).

Anophthalmia or bilateral microphthalmia  which can be associated with:

-        other eye abnormalities: cataract, optic nerve dysplasia, sclerocornea, persistence of hyperplastic primary vitreous body

-        facial dysmorphism

-        esophageal atresia

-        brain malformation

-        micropenis with cryptorchidism

Anesthetic implications:

according to the associated anomalies

References :

• Ragge NK, Lorenz B, Schneider A, Bushby K et al.
  SOX2 anophtalmia syndrome.
  Am J Med Genet 2005 ; 135A : 1-7.

Updated: May 2017