The clinical, neuroradiographic, and endocrinologic profile of patients with bilateral optic nerve hypoplasia

Ophthalmology. 1997 Mar;104(3):493-6. doi: 10.1016/s0161-6420(97)30286-3.


Purpose: The purpose of the study was to expand on ophthalmologic and endocrinologic data and report the neuroimaging findings of 35 patients with bilateral optic nerve hypoplasia (BONH).

Methods: A retrospective chart review of 35 children with BONH was conducted. Data on visual acuity, refractive error, and presence of nystagmus and strabismus were collected. Twenty-six children underwent full-endocrinologic evaluation and magnetic resonance imaging or computed tomography scanning.

Results: The male:female ratio was 2:1. Ten percent of eyes had visual acuity of 20/60 or better, whereas 34% had no light perception. Eighty-six percent of eyes had acuity less than 20/200, and 80% of patients were legally blind. Most patients (86%) had nystagmus or strabismus or both. Forty-six percent had absence of the septum pellucidum and corpus callosum on neuroimaging. Twenty-seven percent of patients had endocrinologic abnormalities, with growth hormone deficiency being the most common. Panhypopituitarism occurred in 11.5% of children.

Conclusions: Although the visual prognosis of children with BONH generally is poor, 10% of such patients have excellent acuity. In contrast to previous reports, endocrine abnormalities were seen in only one quarter of patients, and the full-blown deMorsier syndrome (septo-optic dysplasia with panhypopituitarism) was seen in only 11.5% of patients with BONH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / diagnostic imaging
  • Adolescent
  • Agenesis of Corpus Callosum
  • Blindness / etiology
  • Child
  • Child, Preschool
  • Corpus Callosum / diagnostic imaging
  • Corpus Callosum / pathology
  • Female
  • Growth Hormone / deficiency*
  • Humans
  • Hypopituitarism / etiology
  • Hypopituitarism / pathology
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Nystagmus, Pathologic / etiology
  • Nystagmus, Pathologic / pathology*
  • Optic Nerve / abnormalities*
  • Optic Nerve / diagnostic imaging
  • Optic Nerve / pathology*
  • Refractive Errors / etiology
  • Retrospective Studies
  • Septum Pellucidum / abnormalities
  • Septum Pellucidum / diagnostic imaging
  • Septum Pellucidum / pathology
  • Strabismus / etiology
  • Strabismus / pathology*
  • Tomography, X-Ray Computed
  • Visual Acuity


  • Growth Hormone