OPTIC DISC ANOMALIES AND FRONTONASAL DYSPLASIA

Aims-To document the optic disc abnormalities in patients with fronton asal dysplasia in association with basal encephalocele. Methods-Names and hospital numbers of patients with midline clefts were obtained fro m the ophthalmology and genetics database. Six patients were identifie d who had the following common findings: midline facial cleft with mid line cleft lip and palate; hypertelorism; absent corpus callosum; basa l (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photog raphy where possible. Results-Two patients had unilateral and one a bi lateral peripapillary staphyloma. Two patients had bilateral optic dis c hypoplasia and one appeared to have a peripapillary staphyloma in on e eye and a morning glory disc in the other. Conclusion-Optic disc abn ormalities were found in all patients constellation of clinical findin gs. association appears to represent a distinct subgroup within the sp ectrum of frontonasal dysplasia. The presence of midline facial anomal ies and any dysplastic disc should alert the physician as to the prese nce of an encephalocele.