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Br J Ophthalmol 1998;82:290-293 doi:10.1136/bjo.82.3.290
  • Original Article
    • Clinical science

Optic disc anomalies and frontonasal dysplasia

  1. P Hodgkinsa,
  2. M Leesb,
  3. J Lawsona,
  4. W Reardonb,
  5. J Leitcha,
  6. P Thorogoodc,
  7. R M Winterb,
  8. D S I Taylora
  1. aDepartment of Ophthalmology, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, bDepartment of Clinical Genetics, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, cDevelopmental Biology Unit, Institute of Child Health, 30 Guildford Street, London WC1N 1EH
  1. Mr D S I Taylor.
  • Accepted 29 September 1997

Abstract

AIMS To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele.

METHODS Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible.

RESULTS Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other.

CONCLUSION Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele.

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