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

Case 2 Teaching Points

  • Show marked reduction in cone function (photopic single flash and 30 Hz flicker)
  • Mildly reduced scotopic ERG (dark-adapted b-wave)
  • Nearly normal thresholds on dark adaptation
  • Bilateral atrophic changes in the macula; bull’s-eye maculopathy may be seen
  • Abnormal visual acuity and color vision
  • Many mutations identified, with all inheritance patterns possible
Last Modified: Friday, 27-Jun-2008 10:30:30 EDT