OBSOLETE: Isolated optic nerve hypoplasia/aplasia

Orpha code: 137902OMIM code: 165550

Definicja

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
Klasyfikacja

Morphological anomaly

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

No additional description.

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