Optic Atrophy in Children

Eye Malformation/Injury/Infection
- Aniridia
- Accidental or Non-Accidental trauma
- Neuroretinitis
Retinal Dystrophy
- CSNB
- Leber congenital amaurosis
- Stargart disease
- X-linked retinoschisis
- 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
Inheritable Optic Atrophy
- Dominant Optic Atrophy
  - OPA 1
- Leber Hereditary Optic Neuropathy
  - Mitrochondrial DNA mutation- mothers pass to children
- DIDMOA (Diabetes Insipidus/Diabetes mellitus/ Optic Atrophy)
  - a.k.a Wolfram Syndrome
Skeletal Malformation
Toxic/Metabolic
- Anemia
- Lead poisoning (or other heavy metals; arsenic, mercury)
- B12 deficiency
- Vitamin D Deficiency (Rickets)

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)
- Heavy metal screen in blood (toxic exposure of lead and others)
- B12 (GI malabsorption / nutritional deficiency)
- Lactate levels in whole blood (neurogenerytative diseases)
- Syphilis Total Serum Antibodies
- consider Lyme serum antibody titers for acute or late infection
- consider hereditary optic neuropathy genetic panel

OCT nerves and macula
ERG
VEP
Molecular Genetic testing
- Hereditary Optic Neuropahty
- Dominant Optic Atrophy (OPA1)
Lumbar Puncture
- CNS infection
- Hydrocephalus