Ophthalmological and intracranial anomalies in patients with clinical anophthalmos

Purpose: To better describe the clinical and neuroimaging spectrum of abnormalities in clinical anophthalmos. Methods: We performed a retrospective review of all 17 patients admitted to the King Khaled Eye Specialist Hospital with clinical anophthalmos over a 15 year period who had a complete ophthalmological examination documented and received computed tomographic (CT) imaging of the orbits and brain. Results: Patients with clinical anophthalmos had a high incidence of developmental abnormalities involving both eyes (15/17 patients, 88%), the brain (12/17 patients, 71%) and the body (7/12, 58%). The incidence of central nervous system anomalies reached 100% in patients with bilateral small optic nerves on CT scan. Conclusions: Patients with clinical anophthalmos share a similar constellation of neurological, somatic and neuroradiological abnormalities as patients with microphthalmos, septo-optic dysplasia and clinical optic nerve hypoplasia. This fact may provide insight into developmental abnormalities of the afferent visual system and brain.