Congenital Disorders of the Optic Nerve

Abnormal fusion of the optic cup

Sporadic or inherited

CHARGE association (coloboma, choanal atresia, congenital heart disease, and multiple other abnormalities)

Walker- Warburg syndrome

Goltz focal dermal hypoplasia

Aicardi syndrome

Goldenhar syndrome

Linear sebaceous naevus syndrome

Dandy Walker malformation

Renal coloboma syndrome (with a mutation of PAX2 transcription)

congenital optic disc dysplasia

Typically isolated

transphenoidal enchephalocele and hypopituitarism

Retinal detachment

Subretinal neovascularization

disturbance of peripapillary scleral development

Usually isolated and unilateral

frontonasal displasia with encephalocele

facial capillary hemangioma

linear nevus sebaceous syndrome

Congenital disorders of the optic nerve: excavations and hypoplasia. Dutton GN. Eye 2004