[MIM 601 552]

Very rare. Ophthalmic syndrome. Autosomal recessive transmission with pseudodominance of a mutation of the ASPH gene  (aspartyl β-hydroxylase) on 8q12.3.

Association of:

-         facial dysmorphism: hooked nose, flat cheeks, downslanting palpebral fissures, triangular chin and dental malocclusion

-         dislocation of lens

-         anomalies of the anterior segment of the eye: risk of glaucoma

-         conjunctival cysts in the zones where the sclera is too thin

Anesthetic implications: 

poor vision; eye protection 

References : 

• Patel, N. et al. 
  Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi Syndrome. 
  Am J Hum Genet 2014; 94: 755-9.

Updated: September 2018