Dominantly-Inherited Optic Neuropathy

    • Dominantly-inherited, binocularly symmetrical optic neuropathy caused by a chromosomal mutation at 3q (OPA1)
    • Visual deficit may be mild or moderate and only minimally progressive
    • No treatment
    • Core clinical features
      • Patients are often unaware of reduced vision
      • Diagnosis is often prompted by a failed vision screening examination or when family members are identified as having this condition
      • Visual acuity gradually falls equally in both eyes but not below 20/200 (6/60, 0.1)
      • Bilateral central or centrocecal scotomas
      • Diffuse or wedge-shaped temporal optic disc pallor in both eyes
    • Possible accompanying clinical features
      • Nystagmus
      • Sensorineural hearing loss
    • Imaging features
      • Brain imaging is normal or shows reduced optic nerve caliber bilaterally
    • Compressive optic neuropathy
    • Toxic optic neuropathy
    • Nutritional deprivation optic neuropathy
    • B12 deficiency
    • Hereditary photoreceptor degeneration
    • Optic neuritis
    • Psychogenic visual loss
    • Order brain imaging to rule out a compressive optic neuropathy even if all findings are classic, including a clear family history
    • Order genetic studies and counseling if appropriate
    • Provide low vision aids
    • Visual loss will often stabilize by the end of the first decade of life
    • Tip: other genetic causes and pedigrees of childhood optic neuropathy, other than OPA 1, are being reported

    Optic Nerve And Chiasm Disorders

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