Document Detail


Ophthalmic manifestations of trisomy 8 mosaic syndrome.
MedLine Citation:
PMID:  9695089     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Trisomy 8 mosaicism can present with a varied clinical picture. A significant number of cases have ocular manifestations. The most commonly reported in the literature have been corneal abnormalities and strabismus. We present a case of trisomy 8 mosaic syndrome with very different ophthalmic manifestations, some of which are previously unreported in the literature. The patient who was known to have trisomy 8 mosaic syndrome was referred with concerns about his visual abilities. He had a characteristic facial dysmorphism and other systemic features associated with this condition. Ophthalmic features included bilateral Duane's syndrome, bilateral myopic astigmatism, congenital pendular nystagmus, and macula hypoplasia. Electrodiagnostic tests confirmed extensive abnormality of cone function in both eyes. This case is discussed in relation to a review of the literature.
Authors:
S Anwar; K Bradshaw; A J Vivian
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  19     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  1998 Jun 
Date Detail:
Created Date:  1998-10-01     Completed Date:  1998-10-01     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  81-6     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, Addenbrookes Hospital, Cambridge, UK.
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MeSH Terms
Descriptor/Qualifier:
Astigmatism / genetics
Child
Chromosomes, Human, Pair 8 / genetics*
Duane Retraction Syndrome / genetics*
Electroretinography
Face / abnormalities
Fundus Oculi
Humans
Macula Lutea / abnormalities
Male
Mosaicism*
Myopia / genetics
Nystagmus, Pathologic / genetics
Retinal Cone Photoreceptor Cells / abnormalities,  physiopathology
Retinal Diseases / genetics*,  physiopathology
Trisomy*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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