Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome

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.