Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram

Am J Ophthalmol. 1990 Jan 15;109(1):44-8. doi: 10.1016/s0002-9394(14)75577-1.

Abstract

We studied three members of three successive generations of a family with autosomal dominant congenital stationary night blindness and normal fundi. Psychophysical studies on two members showed normal final cone thresholds and mildly increased rod thresholds. Full-field electroretinograms on all three members showed normal photopic b-wave amplitudes and implicit times. Under scotopic conditions, the rod response was absent, and with a bright flash stimulus, there was a normal a-wave with no b-wave. This electronegative dark-adapted electroretinogram resembled the Schubert-Bornschein type seen in congenital stationary blindness, which has been seen only in autosomal and X-linked recessive pedigrees.

Publication types

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

MeSH terms

  • Adult
  • Child, Preschool
  • Dark Adaptation
  • Electroretinography*
  • Female
  • Fundus Oculi*
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Night Blindness / congenital*
  • Night Blindness / genetics
  • Night Blindness / physiopathology
  • Pedigree
  • Visual Acuity