====== Optic Atrophy in a Children ======

====Causes====
  * Eye Malformation/Injury/Infection
    * Aniridia
    * Accidental or Non-Accidental trauma
    * Neuroretinitis
  * Retinal Dystrophy
    * CSNB
    * Leber congenital amaurosis
    * Stargart disease
    * 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
    * 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
    * Labs: 
      * CBC (anemia) 
      * [[https://www.healthcare.uiowa.edu/path_handbook/handbook/test945.html|Heavy metal screen in blood]] (toxic exposure of lead and others)
      * [[https://www.healthcare.uiowa.edu/path_handbook/handbook/test1953.html|B12]] (GI malabsorption / nutritional deficiency) 
      * [[https://www.healthcare.uiowa.edu/path_handbook/handbook/test1184.html|Lactate levels in whole blood]] (neurogenerytative diseases)
      * [[https://www.healthcare.uiowa.edu/path_handbook/handbook/test3487.html|Syphilis Total Serum Antibodies]]
      * 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]] 
====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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