The clinical presentation of bradyopsia in children

J AAPOS. 2017 Dec;21(6):507-509.e1. doi: 10.1016/j.jaapos.2017.07.212. Epub 2017 Oct 28.

Abstract

Diagnosing bradyopsia can be challenging in young children because structural ophthalmic examination is typically normal and visual acuity can improve with pinhole despite no significant refractive error. This case series highlights the clinical presentations and features of 5 affected children (3 Arab families) who harbored the same homozygous RGS9 frameshift mutation, which seems to represent a founder effect for the Arabian Peninsula.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Electroretinography
  • Eye Diseases, Hereditary / diagnosis*
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / physiopathology
  • Female
  • Founder Effect
  • Frameshift Mutation*
  • Humans
  • Male
  • Pedigree
  • RGS Proteins / genetics*
  • Retina / physiopathology
  • Saudi Arabia
  • Vision Disorders / diagnosis
  • Vision Disorders / genetics
  • Visual Acuity

Substances

  • RGS Proteins
  • regulator of g-protein signaling 9

Supplementary concepts

  • Prolonged Electroretinal Response Suppression