Ophthalmologic findings in the Cornelia de Lange Syndrome.
BACKGROUND
Cornelia de Lange Syndrome (CdLS) is a disorder caused in many patients by a mutation in the NIPBL gene with a dominant pattern of inheritance characterized by mental retardation, prenatal and postnatal growth retardation, upper-limb abnormalities, and characteristic facies. Few data exist concerning the ophthalmic findings in this syndrome.


METHODS
One hundred twenty individuals with CdLS underwent ophthalmic examination to ascertain the relative frequencies of oculofacial and ophthalmic abnormalities.


RESULTS
We confirmed the frequent findings of synophrys (99%), long lashes (99%), hypertrichosis of the brows (96%), ptosis (44%), epiphora (22%), nasolacrimal duct obstruction (16%), blepharitis (25%), and myopia (58%). In addition, we found peripapillary pigment (83%), and microcornea (21%), which have infrequently been mentioned in the literature.


CONCLUSIONS
Patients with CdLS can have multiple eye problems. Many of these problems can be readily treated, including myopia, blepharitis, nasolacrimal duct obstruction, and ptosis. Early examination is recommended for all children known or suspected to have CdLS.
Wygnanski-Jaffe
Tamara
T
Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
Shin
John
J
Perruzza
Enza
E
Abdolell
Mohamed
M
Jackson
Laird G
LG
Levin
Alex V
AV
D000293:Adolescent; D000328:Adult; D001762:Blepharitis / Q000150:complications* / Q000175:diagnosis; D001763:Blepharoptosis / Q000150:complications* / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities; D003635:De Lange Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007766:Lacrimal Apparatus Diseases / Q000150:complications* / Q000175:diagnosis; D008297:Male; D009216:Myopia / Q000150:complications* / Q000175:diagnosis; D009887:Ophthalmoscopy; D010857:Pigment Epithelium of Eye / Q000002:abnormalities; D012720:Severity of Illness Index