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

Case 60 Diagnosis

Cone-rod dystrophy

Differential Diagnosis

  • Retinitis pigmentosa: no waxy pallor of the disc or bone-spicule-like changes, though sine pigmento type possible
  • Cone dystrophy: rods also reduced on ERG, no bull’s eye maculopathy
  • Stargardt disease: no foveal atrophy, no discrete yellowish round or pisciform flecks at level of retinal pigment epithelium
  • Mild mutation-related Leber congenital amaurosis
  • Myopic degeneration: electroretinogram findings usually not as pronounced as in this patient
  • Congenital stationary night blindness: could be x-linked carrier
Last Modified: Friday, 27-Jun-2008 12:44:32 EDT