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Congenital Disorders of the Optic Nerve
Excavations and Hypoplasia
Optic Disc Coloboma
- Abnormal fusion of the optic cup
- Sporadic or inherited
Associations
- CHARGE association (coloboma, choanal atresia, congenital heart disease, and multiple other abnormalities)
- Walker- Warburg syndrome
- Goltz focal dermal hypoplasia
- Linear sebaceous naevus syndrome
- [https://www.childneurologyfoundation.org/disorder/dandy-walker-malformation/|Dandy Walker malformation]
- Renal coloboma syndrome (with a mutation of PAX2 transcription)
Morning Glory Anomaly
- congenital optic disc dysplasia
Associations
- Typically isolated
- transphenoidal enchephalocele and hypopituitarism
- Retinal detachment
- Subretinal neovascularization
Peripapillary staphyloma
- disturbance of peripapillary scleral development
Associations
- Usually isolated and unilateral
- frontonasal displasia with encephalocele
- facial capillary hemangioma
- linear nevus sebaceous syndrome