Show pageExport to PDFBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== 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 * [[aicardi_syndrome|Aicardi syndrome]] * [[goldenhar_syndrome|Goldenhar syndrome]] * 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 ====Optic Nerve Hypoplasia==== see entry [[optic_nerve_hypoplasia|Optic Nerve Hypoplasia]] ====Optic Disc Cupping in Periventricular Leukomalacia==== * 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 ==== References ==== * {{:congentital_disorders_optic_nerve_excavations_copy.pdf | Congenital disorders of the optic nerve: excavations and hypoplasia. Dutton GN. Eye 2004}}