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--- congenital_disorders_optic_nerve [2024/02/08 21:04] – created Scott Larson
+++ congenital_disorders_optic_nerve [2025/04/18 20:40] (current) – external edit 127.0.0.1
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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
+  * [[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)
-==== References ====
+==== 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}}