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 g...

Full description

Saved in:

Bibliographic Details
Published in:	Ophthalmic plastic and reconstructive surgery Vol. 39; no. 3; pp. e71 - e72
Main Authors:	Cruz, Antonio Augusto V., Feltrini, Talissa, Chahud, Fernando, Messias, Katharina
Format:	Journal Article
Language:	English
Published:	United States Lippincott Williams & Wilkins 01-05-2023
Subjects:	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
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0740-9303 1537-2677
DOI:	10.1097/IOP.0000000000002253