Isolated optic nerve aplasia

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Isolated optic nerve aplasia?

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