The infant with nystagmus, normal appearing fundi, but an abnormal ERG

Surv Ophthalmol. 1989 Nov-Dec;34(3):173-86. doi: 10.1016/0039-6257(89)90101-x.

Abstract

Many retinal disorders present during infancy with nystagmus, decreased vision, and normal-appearing fundi, but an abnormal ERG. The most common of these disorders are Leber's congenital amaurosis, achromatopsia, and congenital stationary night-blindness. Other disorders with similar ocular manifestations may be associated with a variety of life-threatening systemic abnormalities. This review describes the clinical, electrophysiological, and laboratory findings that can be used to distinguish among these conditions.

Publication types

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

MeSH terms

  • Blindness / complications
  • Blindness / congenital
  • Blindness / diagnosis
  • Electroretinography*
  • Female
  • Fundus Oculi*
  • Humans
  • Infant
  • Male
  • Microbodies
  • Night Blindness / complications
  • Night Blindness / congenital
  • Night Blindness / diagnosis
  • Nystagmus, Pathologic / etiology*
  • Photoreceptor Cells / physiopathology
  • Retinal Diseases / complications
  • Retinal Diseases / congenital
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / physiopathology
  • Syndrome