Progressive cone dystrophy

Trans Am Ophthalmol Soc. 1987:85:82-100.

Abstract

Psychophysical, reflectometric, and electrophysiological studies were performed on four members of a dominant pedigree with progressive cone dystrophy. The two youngest individuals were asymptomatic at the initial examination, and none of the subjects complained of problems associated with night vision. Absent or grossly reduced cone-mediated ERG responses revealed the widespread loss of cone function. Moderate elevations (1 log unit) in absolute threshold together with reductions in rhodopsin levels in the midperipheral retina provided evidence of a mild impairment of the rod system also, although not to the degree seen in a cone-rod dystrophy. The progressive nature of the disease was apparent from the case histories and the changes in visual performance that occurred on re-test after a 5-year interval. Likewise, the results of incremental threshold measurements at several retinal loci suggested that peripheral cones may be affected earlier and more severely than those in the central retina.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Dark Adaptation
  • Electroretinography
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Pedigree
  • Photoreceptor Cells / physiopathology*
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / physiopathology
  • Vision Disorders / genetics
  • Vision Disorders / physiopathology