| Visual function in Noonan and LEOPARD syndrome. | |
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MedLine Citation:
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PMID: 19568997 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The aim of the study was to assess various aspects of visual and visuoperceptual function in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) with mutations affecting the PTPN11, SOS1 and RAF1 genes. Twenty-four patients were assessed with a battery of tests assessing visual function including ophthalmological and orthoptic evaluation and age appropriate behavioural visual tests, including measures of crowding acuity (Cambridge crowding cards), and stereopsis (TNO test). Twenty-one subjects were also assessed with the visuo-motor integration (VMI) test. Twenty of the 24 patients (83%) had abnormalities of visual function on at least one of the tests used to assess visual function or on ophthalmological examination, and 7 of 21 (33%) also had abnormalities on VMI. Ocular movements and stereopsis were most frequently abnormal (50% and 79%, respectively). Our results suggest that visual and visuoperceptual abilities are commonly impaired in patients with Noonan and LEOPARD syndrome and they are probably related to a multifactorial etiology. |
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Authors:
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P Alfieri; L Cesarini; G Zampino; F Pantaleoni; A Selicorni; A Salerni; I Vasta; M Cerutti; A Dickmann; F Colitto; S Staccioli; C Leoni; D Ricci; C Brogna; M Tartaglia; E Mercuri |
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Publication Detail:
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Type: Journal Article Date: 2009-06-30 |
Journal Detail:
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Title: Neuropediatrics Volume: 39 ISSN: 1439-1899 ISO Abbreviation: Neuropediatrics Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2009-07-01 Completed Date: 2009-08-13 Revised Date: 2010-03-02 |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
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Languages: eng Pagination: 335-40 Citation Subset: IM |
Affiliation:
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Pediatric Neurology Unit, Catholic University, Rome, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child DNA Mutational Analysis Depth Perception / genetics Female Genotype Humans LEOPARD Syndrome / diagnosis*, genetics Male Noonan Syndrome / diagnosis*, genetics Ocular Motility Disorders / diagnosis, genetics Perceptual Disorders / diagnosis*, genetics Phenotype Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics Proto-Oncogene Proteins c-raf / genetics Psychomotor Disorders / diagnosis, genetics SOS1 Protein / genetics Vision Disorders / diagnosis*, genetics Vision Tests Visual Acuity / genetics Visual Perception* Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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GGP07115//Telethon |
| Chemical | |
Reg. No./Substance:
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0/SOS1 Protein; EC 2.7.11.1/Proto-Oncogene Proteins c-raf; EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
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