Clinical feature analysis of congenital optic nerve abnormalities

Jpn J Ophthalmol. May-Jun 2006;50(3):250-5. doi: 10.1007/s10384-006-0310-8.


Purpose: We investigated the clinical characteristics and associated ocular and systemic anomalies in young children with congenital optic nerve abnormalities, and evaluated the therapeutic results of treatment for strabismus and amblyopia.

Methods: A retrospective study was conducted using the medical records of patients who were diagnosed with congenital optic nerve abnormalities in our hospital between 1995 and 2004.

Results: This study involved 72 eyes of 51 young children (M : F = 25 : 26); 21 of these patients (41.2%) had bilateral abnormalities. The types and percentages of each abnormality were as follows: optic nerve hypoplasia, 47%; optic disc coloboma, 31.4%; morning glory syndrome, 11.8%; and myelinated nerve fiber, 9.8%. The first clinical manifestations noticed by parents were strabismus and decreased visual acuity. Occlusion therapy was carried out in 16 patients, and the visual acuities of two patients were improved by more than two lines of the Early Treatment Diabetic Retinopathy Study visual acuity chart. Accompanying strabismus was found in 70.6% of the patients; 14 patients underwent strabismic surgery, and 10 of these patients (41.2%) maintained a stable angle.

Conclusions: The most common congenital optic nerve abnormality was optic nerve hypoplasia, and the associated systemic abnormalities found were optic nerve hypoplasia and disc coloboma. Patients with congenital optic nerve abnormalities usually have a generally poor visual prognosis, but we emphasize the importance of treatment for associated strabismus and amblyopia.

Publication types

  • Comparative Study

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Optic Nerve / abnormalities*
  • Optic Nerve Diseases / congenital*
  • Optic Nerve Diseases / diagnosis
  • Optic Nerve Diseases / therapy
  • Retrospective Studies
  • Sensory Deprivation
  • Visual Acuity