Optic Nerve Aplasia

A 5-month-old girl and a 4-month-old boy were referred at different points in time for severe microphthalmia of their left eyes. They were both full-term babies without any systemic or neurological abnormalities. Consanguinity was reported between the parents of both babies (both were first cousins). Their right eyes were normal.

Their left eyes were severely microphthalmic without reaction to light. Color imaging shows multiple choroidal colobomas in each baby, with a small coloboma-like whitish area within the presumed optic disc region. There are no retinal vessels visible with total retinal aplasia. B-scan ultrasonography of the left eye showed short axial length with no visible optic nerve shadow (not shown).