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bilateral_optic_atrophy [2020/02/10 02:46] Scott Larsonbilateral_optic_atrophy [2025/05/30 18:39] (current) Scott Larson
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-====== Bilateral Optic Atrophy in a Child ====== +====== Optic Atrophy in Children ====== 
-===== Suggested Initial Evaluation ===== + 
-    * Ask about History of Prematurity, Trauma, Neurological decline or seizures+====Causes==== 
 +  * Eye Malformation/Injury/Infection 
 +    * Aniridia 
 +    * Accidental or Non-Accidental trauma 
 +    * Neuroretinitis 
 +  * Retinal Dystrophy 
 +    * CSNB 
 +    * Leber congenital amaurosis 
 +    * [[stargardt_disease|Stargardt disease]]- late finding 
 +    * X-linked retinoschisis 
 +    * [[incontientia_pigmenti|Incontientia pigmenti]] 
 +  * Brain malformation/injury/infection/degeneration 
 +    * Optic neuritis 
 +      * Neuromyelitis optica  
 +    * Brain Tumor 
 +      * especially suprasellar tumors 
 +    * Intraventricular hemorrhage 
 +    * Dandy Walker 
 +    * Congenital Hydrocephalus 
 +    * Perinatal Insult  
 +      * Periventricular leukomalacia  
 +    * Meningitis 
 +    * [[batten_disease|Batten Disease]] 
 +    * Zellweger spectrum (peroxisomal disorder) 
 +    * Charcot-Marie-Tootl 
 +    * Brown-Vailetto-Van Laere syndrome 
 +    * Sandhoff Disease 
 +    * CNS Syphilis  
 +    * Lyme disease 
 +  * [[hereditary_optic_neuropathies|Inheritable Optic Atrophy]] 
 +    * [[https://eyewiki.aao.org/Autosomal_Dominant_Optic_Atrophy|Dominant Optic Atrophy]] 
 +      * OPA 1  
 +    * [[leber_hereditary_optic_neuropathy|Leber Hereditary Optic Neuropathy]] 
 +      * Mitrochondrial DNA mutation- mothers pass to children  
 +    * DIDMOA (Diabetes Insipidus/Diabetes mellitus/ Optic Atrophy) 
 +      * a.k.a [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705145/|Wolfram Syndrome]] 
 +  * Skeletal Malformation 
 +  * Toxic/Metabolic 
 +    * Anemia 
 +    * Lead poisoning (or other heavy metals; arsenic, mercury) 
 +    * B12 deficiency 
 +    * Vitamin D Deficiency (Rickets) 
 +==== Suggested Initial Evaluation ==== 
 +    * Ask about History of Prematurity, Trauma, Neurological decline or seizure, birth history, Post natal growth and development 
 +    * Family history of low vision and heritable eye disease 
 +    * Exam: 
 +      * Visual acuity 
 +      * Pupil reactivity 
 +      * Color vision  
 +      * Refraction  
 +      * Anterior Segment and Posterior segment exam 
 +      * Visual fields 
 +      * OCT nerves/macula 
 +      * Fundus Photos
     * MRI orbits and brain     * MRI orbits and brain
     * Labs:      * Labs: 
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       * consider Lyme serum antibody titers for [[https://www.healthcare.uiowa.edu/path_handbook/handbook/test3160.html|acute]] or [[https://www.healthcare.uiowa.edu/path_handbook/handbook/test3161.html|late]] infection        * consider Lyme serum antibody titers for [[https://www.healthcare.uiowa.edu/path_handbook/handbook/test3160.html|acute]] or [[https://www.healthcare.uiowa.edu/path_handbook/handbook/test3161.html|late]] infection 
       * consider [[https://www.carverlab.org/faqs/disease-descriptions/lhon|hereditary optic neuropathy genetic panel]]        * consider [[https://www.carverlab.org/faqs/disease-descriptions/lhon|hereditary optic neuropathy genetic panel]] 
 +====Subsequent Evaluation====
 +  * OCT nerves and macula
 +  * ERG
 +  * VEP
 +  * Molecular Genetic testing
 +    * Hereditary Optic Neuropahty
 +    * Dominant Optic Atrophy (OPA1) 
 +  * Lumbar Puncture 
 +    * CNS infection 
 +    * 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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