The ocular pathology of Norrie disease in a fetus of 11 weeks' gestational age

Graefes Arch Clin Exp Ophthalmol. 1992;230(3):248-51. doi: 10.1007/BF00176299.


The ocular pathology of Norrie disease was studied for the first time in a fetus of 11 weeks' gestation, following prenatal diagnosis using genetic markers for Norrie disease and elective abortion. The eyes were histologically normal, with no evidence of primary neuroectodermal maldevelopment of the retina, previously postulated to be the cause of the ocular changes. We believe that the retinal and other manifestations of Norrie disease are the result of a primary abnormality of vascular proliferation, probably in relation to persistent hyperplastic primary vitreous after approximately 14 weeks' gestation. We postulate that the ocular and otological effects of Norrie disease may be due to a genetically mediated abnormality of secretion of, or sensitivity to, angiogenic growth factors at endodermal-neuroectodermal interfaces during fetal and postnatal development.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Legal
  • Adult
  • Blindness / embryology*
  • Blindness / pathology
  • DNA Probes
  • Deafness / embryology*
  • Eye / embryology*
  • Eye / pathology
  • Female
  • Fetal Diseases / genetics
  • Fetal Diseases / pathology*
  • Fetus
  • Genetic Linkage
  • Gestational Age
  • Humans
  • Male
  • Polymorphism, Restriction Fragment Length
  • Prenatal Diagnosis
  • Retina / abnormalities*
  • Retina / embryology
  • X Chromosome


  • DNA Probes