Br J Ophthalmol 1998;82:290-293 ( March )
Optic disc anomalies and frontonasal dysplasia
P Hodgkins,a
M Lees,b
J Lawson,a
W Reardon,b
J Leitch,a
P Thorogood,c
R M Winter,b
D S I Taylora
a Department
of Ophthalmology, Great Ormond Street Hospital for Children, Great
Ormond Street, London WC1N 3JH, b Department of Clinical
Genetics, Great Ormond Street Hospital for Children, Great Ormond
Street, London WC1N 3JH, c Developmental Biology Unit, Institute of Child Health,
30 Guildford Street, London WC1N 1EH
Correspondence to: Mr D S I Taylor.
Accepted for publication 29 September 1997
AIMS
To document the optic disc abnormalities in
patients with frontonasal dysplasia in association with basal encephalocele.
METHODSNames 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.
RESULTSTwo 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.
CONCLUSIONOptic 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.
Keywords:
frontonasal dysplasia;
optic disc;
encephalocele
© 1998 by British Journal of Ophthalmology
