Coloboma

Case contributed by Dr Ali Alsmair

Presentation

15 year old female patient presented with left optic disc abnormality on fundoscopy.

Patient Data

Age: 15 years
Gender: Female
MRI

The left optic nerve head is displaced posteriorly and there is a small 'funnel-shaped' excavation of the posterior fundus into the nerve. Features are consistent with left-sided coloboma.
Unremarkable right optic nerve. No optic nerves masses.
Unremarkable bilateral orbital muscles.
Unremarkable bilateral eye globes.
No inflammation of bilateral retro-orbital fat.

Case Discussion

Colobomas may be isolated or associated with multiple syndromes and congenital anomalies.

Associated midline structural abnormalities of the brain and skull should be detected to exclude Morning glory syndrome.

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