Isolated optic nerve aplasia
ORPHA:637064· ICD-10 Q07.8
Definition
A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal