Clinical vision characteristics of the congenital achromatopsias. II. Color vision

Optom Vis Sci. 1996 Jul;73(7):457-65. doi: 10.1097/00006324-199607000-00002.

Abstract

Twelve X-linked (XL) achromats and 43 autosomal recessive (AR) achromats were tested using the Farnsworth D-15, Nagel anomaloscope, Sloan achromatopsia test, and Berson test using standard procedures. All of the tests identify achromatopsia, but very few differentially diagnose the various types. AR achromats were subclassified as complete (rods only) or incomplete (residual cone function present) by additional psychophysical testing. Complete and incomplete ARs do not perform differently on any clinical color vision measure, indicating that (1) rods predominantly mediate vision in both groups and (2) these tests are not useful for distinguishing between the groups. Both groups show considerable interindividual variation on all measures. Only one of the measures, the Berson test, designed to distinguish XLs from ARs, does so reliably. XLs and ARs do not differ significantly on the Nagel anomaloscope or most of the Sloan plates. The confusion angles of the D-15 do differ for the two groups, but the variability in each group makes the measure unreliable for classifying individuals. The Berson test is recommended to distinguish the XL from AR achromats.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Color Perception / physiology*
  • Color Perception Tests
  • Color Vision Defects / congenital*
  • Color Vision Defects / genetics
  • Color Vision Defects / physiopathology*
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Middle Aged
  • X Chromosome / genetics