Alagille Syndrome

Main Features

Eye Findings

  • Posterior embryotoxon (78%-95%)
    • Prominent Schwalbe's line
  • Diffuse fundus hypopigmentation (45%-57%)
  • Optic disc drusen (pseudopapilledema)
  • Papilledema

Other Findings

  • Increased intracranial pressure

Etiology

Resources