OBSOLETE: Isolated optic nerve hypoplasia/aplasia

Orpha code: 137902OMIM code: 165550

Definition

A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system.

Disease data
Classification

Morphological anomaly

ORPHA code
137902
OMIM code
165550
ICD10 code
Q07.8
ICD11 code
-

No additional description.

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