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congenital_disorders_optic_nerve [2024/02/08 21:16] – Scott Larsoncongenital_disorders_optic_nerve [2025/04/18 20:40] (current) – external edit 127.0.0.1
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 ===== Excavations and Hypoplasia ===== ===== Excavations and Hypoplasia =====
 +
 ==== Optic Disc Coloboma ==== ==== Optic Disc Coloboma ====
   * Abnormal fusion of the optic cup   * Abnormal fusion of the optic cup
   * Sporadic or inherited   * Sporadic or inherited
 === Associations === === Associations ===
-  * Unordered List ItemCHARGE association (coloboma, choanal atresia, congenital heart disease, and multiple other abnormalities)+  * CHARGE association (coloboma, choanal atresia, congenital heart disease, and multiple other abnormalities)
   * Walker- Warburg syndrome   * Walker- Warburg syndrome
   * Goltz focal dermal hypoplasia   * Goltz focal dermal hypoplasia
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   * [[goldenhar_syndrome|Goldenhar syndrome]]   * [[goldenhar_syndrome|Goldenhar syndrome]]
   * Linear sebaceous naevus syndrome   * Linear sebaceous naevus syndrome
-  * Dandy Walker malformation+  * [[https://www.childneurologyfoundation.org/disorder/dandy-walker-malformation/|Dandy Walker malformation]]
   * Renal coloboma syndrome (with a mutation of PAX2 transcription)   * Renal coloboma syndrome (with a mutation of PAX2 transcription)
  
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   * Retinal detachment    * Retinal detachment 
   * Subretinal neovascularization   * Subretinal neovascularization
 +
 ==== Peripapillary staphyloma ==== ==== Peripapillary staphyloma ====
   * disturbance of peripapillary scleral development    * disturbance of peripapillary scleral development 
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   * facial capillary hemangioma   * facial capillary hemangioma
   * linear nevus sebaceous syndrome   * 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 ==== ==== References ====
  
   * {{:congentital_disorders_optic_nerve_excavations_copy.pdf | Congenital disorders of the optic nerve: excavations and hypoplasia. Dutton GN. Eye 2004}}   * {{:congentital_disorders_optic_nerve_excavations_copy.pdf | Congenital disorders of the optic nerve: excavations and hypoplasia. Dutton GN. Eye 2004}}