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Ізольована аплазія зорового нерва

ORPHA:637064· ICD-10 Q07.8· Isolated optic nerve aplasia

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Вік початку
Infancy, Neonatal