Differential diagnosis of typical and atypical congenital achromatopsia. Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromasy (general cone dysfunction without achromatopsia), both of which at first had been diagnosed as achromatopsia

Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1978 Dec 8;209(1):19-28. doi: 10.1007/BF00419159.

Abstract

Report on two patients whose symptoms suggested the presence of congenital achromatopsia. In one case there was indeed total colour blindness, but a normal photopic ERG. Here, achromatopsia is the present stage in a process of slow functional decay of the central retina. Most probably the underlying disorder is progressive foveal dystrophy, a central form of cone dystrophy. In the other case there was a nonrecordable photopic ERG, but trichromatic colour vision. This appears to be another patient with oligo-cone trichromasy (general cone dysfunction without achromatopsia), as described by Van Lith.

MeSH terms

  • Adult
  • Color Perception
  • Color Vision Defects / congenital
  • Color Vision Defects / diagnosis*
  • Color Vision Defects / etiology
  • Diagnosis, Differential
  • Electroretinography
  • Humans
  • Macular Degeneration / complications
  • Vision Tests
  • Visual Acuity