Retrobulbar Bilateral Optic Nerve Colobomatous Cysts; MRI & CT Imaging Features

Abstract

Colobomatous cyst of the orbit is a rare malformation associated with microphthalmic globe or asymmetrically large globe. Usually, it appears since birth without any sex predilection and can affect one globe or rarely both the globes. A coloboma is a gap or defect in the globe resulting from the failure of the choroidal fissure to close. A coloboma may be an isolated finding or a part of a complex syndrome. Orbital cystic lesions in childhood differ in their pathology and management. MRI & CT scan can demonstrate the anatomic relationship of the cyst to the globe, prior to surgical intervention as well as any associated developmental anomalies of the brain. We report an 11 year male child with bilateral retrobulbar optic nerve Colobomatous cyst, presenting with diminution of vision, evaluated clinically and radiologically by CT & MRI.

Neuroimaging in Children with Ophthalmological Complaints: A Review

“…When idiopathic, based on evidence of recurrent risk in siblings and the presence of colobomas at birth, the major etiology is most probably genetic 43 . The mode of inheritance is commonly autosomal dominant; PAX2 and PAX6 genes are frequently implicated 43,46 . Idiopathic coloboma is also caused by homozygous mutation in the SALL2 gene.…”

“…Coronal T2W sequences that enable proper assessment of the olfactory bulbs and tracts are also essential. Walker‐Warburg, Aicardi, Goltz (focal dermal hypoplasia), Goldenhar, and linear sebaceous nevus syndromes 46 are also associated with colobomas.…”

“…Morning glory disc anomaly is a rare congenital malformation associated with poor vision and characterized by a funnel‐shaped excavation of the posterior globe that incorporates the optic disc 46,50 . Orbital findings include a funnel‐shaped morphology of the optic disc, with elevation of the adjacent retinal surface and enhancement in the distal optic nerve 50 .…”