Bilateral Microphthalmia with Septo-Optic Dysplasia

ABSTRACT

A 3-month-old boy was referred for assessment and management of apparently absent ocular globes. Ocular examination showed small orbits with apparently absent globes, small conjunctival cul-de-sac, shallow fornices, microblepharon and sunken eyelids. Magnetic resonance imaging of the orbit and brain revealed bilateral extreme microphthalmia, replacement of the optic nerves by disorganised rudimentary tissue tufts, hypoplastic orbits and extraocular muscles, an absent septum pellucidum and an absent corpus callosum. A pituitary hormonal essay showed decreased adrenocorticotropic hormone and thyroid-stimulating hormone. Septo-optic dysplasia has been rarely reported to be associated with microphthalmia. Timely treatment with hydrocortisone and levothyroxine is essential to prevent Addisonian crisis from the stress and pain that may accompany insertion of socket expanders.

KEYWORDS:

• Microphthalmia
• septo-optic dysplasia
• addisonian crisis