Ophthalmological and intracranial anomalies in patients with clinical anophthalmos

Claude Jacquemin, Paul B. Mullaney, Thomas M. Bosley

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Purpose: To better describe the clinical and neuroimaging spectrum of abnormalities in clinical anophthalmos. Methods: We performed a retrospective review of all 17 patients admitted to the King Khaled Eye Specialist Hospital with clinical anophthalmos over a 15 year period who had a complete ophthalmological examination documented and received computed tomographic (CT) imaging of the orbits and brain. Results: Patients with clinical anophthalmos had a high incidence of developmental abnormalities involving both eyes (15/17 patients, 88%), the brain (12/17 patients, 71%) and the body (7/12, 58%). The incidence of central nervous system anomalies reached 100% in patients with bilateral small optic nerves on CT scan. Conclusions: Patients with clinical anophthalmos share a similar constellation of neurological, somatic and neuroradiological abnormalities as patients with microphthalmos, septo-optic dysplasia and clinical optic nerve hypoplasia. This fact may provide insight into developmental abnormalities of the afferent visual system and brain.

Original languageEnglish (US)
Pages (from-to)82-87
Number of pages6
Issue number1
StatePublished - Feb 2000
Externally publishedYes


  • Anophthalmos
  • Coloboma
  • Developmental anomaly
  • Dysgenesis
  • Microphthalmos
  • Optic nerve hypoplasia
  • Septo-optic dysplasia

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems


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