Aplasia of the optic nerve with aniridia.
Aplasia of the optic nerve is a rare anomaly whose pathogenesis and relationship to other congenital disorders is poorly understood. We recently examined a 4-day-old infant who exhibited unilateral aplasia of the optic nerve and aniridia, as well as other ocular and extraocular anomalies. This report is prompted by our interest in the early morphogenesis of the eye and by a possible linkage between optic nerve aplasia, aniridia and associated anomalies in our patients.
D000015:Abnormalities, Multiple; D001344:Autopsy; D005123:Eye / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities* / Q000473:pathology