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Batten Disease

  • a.k.a. CLN3-associated disease and Juvenile Ceroid Lipofucinosis
  • Inherited CNS disorder
    • Progressive loss of developmental milestones
    • Movement and Speech dysfunction
    • Seizures
    • Psychosis
    • Retinal degeneration
  • Vision loss often precedes neurological decline
  • Most survive into early adulthood

Fundus Exam

OCT

Fundus Autofluorescence

photo from Jennifer L. Rossen MD's 2025 AAPOS workshop presentation

Distinguish from Stargardt Disease

  • More profound and rapid vision loss
  • Panretinal involvement early in disease seen on ERG
  • No flecks
  • Optic atrophy often present early
  • Neurological symptoms