1. History
  2. Exam
  3. Photos
  4. Diagnosis
  5. Teaching Points
  6. Comments

Case 5 Diagnosis

Albinism

Differential Diagnosis

  • May be oculocutaneous or ocular
  • Decreased visual acuity (typically 20/40 to 20/200)
  • Light sensitivity
  • Nystagmus
  • Iris translumination
  • Foveal hypoplasia
  • Hypopigmented uvea and retinal pigment epithelium
  • Abnormal decussation at chiasm
  • Electroretinogram: Large amplitudes, decreased implicit times
  • Visual-evoked potentials: Temporal fibers decussate
Last Modified: Friday, 27-Jun-2008 10:34:39 EDT