Optic disc anomalies and frontonasal dysplasia

• Published in: British journal of ophthalmology Vol. 82; no. 3; pp. 290 - 293
• Main Authors: Hodgkins, P, Lees, M, Lawson, J, Reardon, W, Leitch, J, Thorogood, P, Winter, R M, Taylor, D S I
• Format: Journal Article
• Language: English
• Published: BMA House, Tavistock Square, London, WC1H 9JR BMJ Publishing Group Ltd 01.03.1998; BMJ; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - pathology; Biological and medical sciences; Cell adhesion & migration; Child; Child, Preschool; Craniofacial Abnormalities; encephalocele; Encephalocele - pathology; frontonasal dysplasia; Humans; Malformations of the eye; Medical sciences; Ophthalmology; optic disc; Optic Disk - abnormalities; Optic nerve; Original articles - Clinical science; Human; Hypoplasia; Sphenoid; Nervous system diseases; Dysplasia; Stomatology; Frontonasal; Staphyloma; Dysmorphic facies; Congenital disease; Cerebral disorder; Encephalocele; Eye disease; Morning glory syndrome; Malformation; Central nervous system disease; Ethmoid; Optic papilla; Child; Peripapillary
• ISSN: 0007-1161; 1468-2079
• DOI: 10.1136/bjo.82.3.290

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.