title: The clinical, neuroradiographic, and endocrinologic profile of patients with bilateral optic nerve hypoplasia.
abstract: OBJECTIVE
  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.
authors.affiliation: Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami, USA.
authors.forename: R M
authors.initials: RM
authors.lastname: Siatkowski
authors.forename: J C
authors.initials: JC
authors.lastname: Sanchez
authors.forename: R
authors.initials: R
authors.lastname: Andrade
authors.forename: A
authors.initials: A
authors.lastname: Alvarez
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D001766:Blindness / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003337:Corpus Callosum / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007018:Hypopituitarism / Q000209:etiology / Q000473:pathology; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009759:Nystagmus, Pathologic / Q000209:etiology / Q000473:pathology*; D009900:Optic Nerve / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology*; D012030:Refractive Errors / Q000209:etiology; D012189:Retrospective Studies; D012688:Septum Pellucidum / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D013285:Strabismus / Q000209:etiology / Q000473:pathology*; D014057:Tomography, X-Ray Computed; D014792:Visual Acuity
chemical_list: D013006:Growth Hormone