Visual loss as the presenting sign of Jeune syndrome

Eur J Paediatr Neurol. 2000;4(5):243-7. doi: 10.1053/ejpn.2000.0313.


We describe a 5-year-old girl with Jeune syndrome. The presenting symptoms included visual loss and night blindness only. In the neonatal period she had surgery on both hands for bilateral polydactyly. Following clinical and radiological examination a diagnosis of Jeune syndrome was proposed. Although Jeune syndrome is often characterized by multiple organ abnormalities, our patient presented with ocular symptoms at the age of 5 years.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child, Preschool
  • Diagnosis, Differential
  • Electroretinography
  • Female
  • Humans
  • Night Blindness / etiology*
  • Osteochondrodysplasias / diagnosis*
  • Polydactyly / etiology*
  • Retina / abnormalities*
  • Retina / physiopathology
  • Syndrome
  • Thorax / abnormalities*
  • Visual Acuity
  • Visual Fields