| A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion. | |
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MedLine Citation:
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PMID: 20450311 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: Jacobsen syndrome, also known as 11q deletion syndrome, is a rare condition characterized by multiple anomalies, including developmental delay, cardiac abnormalities, blood dyscrasias, distal limb abnormalities, craniofacial anomalies, and variable ophthalmic manifestations. The syndrome's phenotype is due to a terminal deletion and is usually severely debilitating, frequently associated with fatality. Interstitial deletions, not involving the terminal end, have been associated with a more variable and less severe phenotype. METHODS: Herein, we describe a case of interstitial 11q deletion in a 16 year-old female with associated systemic and craniofacial abnormalities as well as a novel combination of ocular findings, specifically strabismus, high myopia, bilateral cataracts, and bilateral total retinal detachments. RESULTS: This case report highlights the necessity for a detailed ophthalmic examination of patients with both interstitial and terminal deletions of the long arm of chromosome 11. |
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Authors:
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Reecha Sachdeva; Jonathan E Sears; Paul J Rychwalski |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 31 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-10 Completed Date: 2010-06-10 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 84-8 Citation Subset: IM |
Affiliation:
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Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Cataract / genetics* Chromosome Deletion* Chromosomes, Human, Pair 11 / genetics* Craniofacial Abnormalities / genetics Female Functional Laterality Humans Myopia / genetics* Phenotype Retinal Detachment / genetics* Strabismus / genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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