Journal article
Ophthalmologic Findings in the Cornelia de Lange Syndrome
Journal of AAPOS, v 9(5), pp 407-415
2005
PMID: 16213388
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
Metrics
Details
- Title
- Ophthalmologic Findings in the Cornelia de Lange Syndrome
- Creators
- Tamara Wygnanski-Jaffe - University of TorontoJohn Shin - University of TorontoEnza Perruzza - University of TorontoMohamed Abdolell - Public Health Sciences The Hospital for Sick Children University of Toronto, Toronto, CanadaLaird G. Jackson - Drexel UniversityAlex V. Levin - University of TorontoJennifer Y Shin - Architecture
- Publication Details
- Journal of AAPOS, v 9(5), pp 407-415
- Publisher
- Mosby, Inc
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Architecture
- Web of Science ID
- WOS:000232782500002
- Scopus ID
- 2-s2.0-26444588642
- Other Identifier
- 991019168276004721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Ophthalmology
- Pediatrics