Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome

Ophthalmic Plast Reconstr Surg. 2023 May-Jun;39(3):e71-e72. doi: 10.1097/IOP.0000000000002253. Epub 2023 Mar 16.


Congenital opticmeningoceles was the term coined to describe large pseudocystic lesions of the intraorbital segment of the optic nerve. This extremely rare congenital anomaly was reported unilaterally only in nonsyndromic patients with fully developed eyes. The authors describe here a 10-month-old girl with a previous diagnosis of Joubert syndrome who presented with the same type of optic nerve malformation in OU. Molecular genetic analysis disclosed a pathogenic variant of the TMEM67 gene which is associated with various types of ciliopathies.

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / pathology
  • Cerebellum / abnormalities
  • Eye Abnormalities* / complications
  • Eye Abnormalities* / diagnosis
  • Female
  • Humans
  • Infant
  • Kidney Diseases, Cystic* / complications
  • Kidney Diseases, Cystic* / diagnosis
  • Kidney Diseases, Cystic* / genetics
  • Retina

Supplementary concepts

  • Agenesis of Cerebellar Vermis