Optic disc anomalies and frontonasal dysplasia. Issue 3 (1st March 1998)

• Record Type: Journal Article
• Authors: Hodgkins, P; Lees, M; Lawson, J; Reardon, W; Leitch, J; Thorogood, P; Winter, R M; Taylor, D S I
• Is Part Of: British journal of ophthalmology. Volume 82:Issue 3(1998)
• Page Start: 290
• Page End: 293
• Publication Date: 1998-03-01
• Subjects: frontonasal dysplasia -- optic disc -- encephalocele; Ophthalmology -- Periodicals; 617.7
• DOI: 10.1136/bjo.82.3.290
• Languages: English
• ISSNs: 0007-1161

Abstract

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.