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bilateral_optic_atrophy [2023/10/26 21:11] Scott Larsonbilateral_optic_atrophy [2025/05/30 18:39] (current) Scott Larson
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-====== Optic Atrophy in Children ======+====== Optic Atrophy in Children ======
  
 ====Causes==== ====Causes====
-  * Eye Malformation/ Injury+  * Eye Malformation/Injury/Infection
     * Aniridia     * Aniridia
     * Accidental or Non-Accidental trauma     * Accidental or Non-Accidental trauma
 +    * Neuroretinitis
   * Retinal Dystrophy   * Retinal Dystrophy
     * CSNB     * CSNB
     * Leber congenital amaurosis     * Leber congenital amaurosis
-    * Stargart disease+    * [[stargardt_disease|Stargardt disease]]- late finding
     * X-linked retinoschisis     * X-linked retinoschisis
-    * Inconttientia  pdigmenti+    * [[incontientia_pigmenti|Incontientia pigmenti]]
   * Brain malformation/injury/infection/degeneration   * Brain malformation/injury/infection/degeneration
 +    * Optic neuritis
 +      * Neuromyelitis optica 
 +    * Brain Tumor
 +      * especially suprasellar tumors
 +    * Intraventricular hemorrhage
     * Dandy Walker     * Dandy Walker
     * Congenital Hydrocephalus     * Congenital Hydrocephalus
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       * Periventricular leukomalacia        * Periventricular leukomalacia 
     * Meningitis     * Meningitis
-    * Batten Disease+    * [[batten_disease|Batten Disease]]
     * Zellweger spectrum (peroxisomal disorder)     * Zellweger spectrum (peroxisomal disorder)
     * Charcot-Marie-Tootl     * Charcot-Marie-Tootl
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     * CNS Syphilis      * CNS Syphilis 
     * Lyme disease     * Lyme disease
-  * Inheritable Optic Atrophy +  * [[hereditary_optic_neuropathies|Inheritable Optic Atrophy]] 
-    * OPA 1 (dominant) +    * [[https://eyewiki.aao.org/Autosomal_Dominant_Optic_Atrophy|Dominant Optic Atrophy]] 
-    * LHON +      * OPA 1  
-    * DIDMOAD +    * [[leber_hereditary_optic_neuropathy|Leber Hereditary Optic Neuropathy]] 
-  Skeletal Malformation  +      * Mitrochondrial DNA mutation- mothers pass to children  
-  * Brain Tumor +    * DIDMOA (Diabetes Insipidus/Diabetes mellitus/ Optic Atrophy) 
-    * suprasellar tumors+      a.k.a [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705145/|Wolfram Syndrome]] 
 +  * Skeletal Malformation
   * Toxic/Metabolic   * Toxic/Metabolic
     * Anemia     * Anemia
-    * Lead poisoning (or other heavy metals) +    * Lead poisoning (or other heavy metals; arsenic, mercury
-    * B12 deficiency  +    * B12 deficiency 
-    * +    * Vitamin D Deficiency (Rickets)
 ==== Suggested Initial Evaluation ==== ==== Suggested Initial Evaluation ====
     * Ask about History of Prematurity, Trauma, Neurological decline or seizure, birth history, Post natal growth and development     * Ask about History of Prematurity, Trauma, Neurological decline or seizure, birth history, Post natal growth and development
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   * Molecular Genetic testing   * Molecular Genetic testing
     * Hereditary Optic Neuropahty     * Hereditary Optic Neuropahty
 +    * Dominant Optic Atrophy (OPA1) 
   * Lumbar Puncture    * Lumbar Puncture 
     * CNS infection      * CNS infection 
     * Hydrocephalus     * Hydrocephalus
 +====References====
 +  - {{::jones-et-al-2020-optic-atrophy-in-children-current-causes-and-diagnostic-approach.pdf |Optic Atrophy in Children: Current Causes and diagnostic approach. Jones R et al. EJO. 2020;30(6):1499-1505}}
  
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