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


Mild temporal pallor right optic nerve and yellow-orange deposits
photo from Jennifer L. Rossen MD's 2025 AAPOS workshop presentation

OCT


loss of ellipsoid zone in fovea, generalized thinning and distortion of retinal layers, loss of outer retinal layers
photo from Jennifer L. Rossen MD's 2025 AAPOS workshop presentation

Fundus Autofluorescence


foveal hypo-fluorescence and ring of hyper-fluorescence in macula
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