Article ID Journal Published Year Pages File Type
9342600 Journal of American Association for Pediatric Ophthalmology and Strabismus 2005 9 Pages PDF
Abstract
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. Conclusion: Patients with CdLS can have mutiple 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.
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Health Sciences Medicine and Dentistry Ophthalmology
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