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

see entry Optic Nerve Hypoplasia

• disturbance of development of the white matter during intrauterine development can lead to optic disc cupping and thinning of the neuroretinal rim
• May be the result of trans-synaptic degeneration

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