Septo-optic dysplasia in two siblings

Am J Ophthalmol. 1990 Jun 15;109(6):632-7. doi: 10.1016/s0002-9394(14)72430-4.


We treated two siblings, a sister and brother, who had features of septo-optic dysplasia, including bilateral optic nerve hypoplasia, absent septum pellucidum, and partial pituitary insufficiency. Additionally, midline central nervous system abnormalities of the corpus callosum and cerebellum were shown. The familial occurrence of this disorder raises the possibility of autosomal-recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum
  • Cerebellum / abnormalities
  • Female
  • Fundus Oculi
  • Humans
  • Hypopituitarism / genetics
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Optic Nerve Diseases / diagnosis
  • Optic Nerve Diseases / genetics*
  • Septum Pellucidum / abnormalities*
  • Tomography, X-Ray Computed