| Bilateral macular dysplasia in fragile X syndrome. | |
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MedLine Citation:
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PMID: 9875989 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: Few studies have investigated the eye and vision dysfunctions of children with the fragile X syndrome. CASE REPORT: We report on a preschool boy with bilateral macular dysplasia and fragile X syndrome. His ocular features and phenotypic and genetic expressions are described. His mentally normal mother was identified as an expansion mutation carrier, and his older sister has learning disabilities, astigmatic refractive error, squint, and mild ptosis. Intrauterine infection has been excluded. CONCLUSION: To our knowledge, the association of macular dysplasia with fragile X syndrome has not been reported. The finding of macular dysplasia might be a coincidental developmental disorder and not a part of the syndrome. It could be considered a condition causing visual deficit with nystagmus in fragile X syndrome. |
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Authors:
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B S Kranjc; A Brezigar; B Peterlin |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Optometry and vision science : official publication of the American Academy of Optometry Volume: 75 ISSN: 1040-5488 ISO Abbreviation: Optom Vis Sci Publication Date: 1998 Dec |
Date Detail:
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Created Date: 1999-02-23 Completed Date: 1999-02-23 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8904931 Medline TA: Optom Vis Sci Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 856-9 Citation Subset: IM |
Affiliation:
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University Eye Hospital, Ljubljana, Slovenia. branka.stirn@guest.arnes.si |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Astigmatism
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etiology* Child, Preschool Electroretinography Evoked Potentials, Visual Fragile X Syndrome / complications*, genetics Fundus Oculi Humans Male Ocular Motility Disorders / etiology* Retinal Dysplasia / complications*, genetics Vision Disorders / etiology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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