| Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome. | |
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MedLine Citation:
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PMID: 18195218 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVES: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS: Three age- and sex-matched patients with Alström syndrome were selected from our retinitis pigmentosa register for repeated ophthalmologic examinations that included tests for color vision and visual fields using Goldmann perimetry and for repeated assessment of full-field ERGs. RESULTS: Electroretinography demonstrated cone-rod degeneration in all 3 patients. A concomitant impairment of color vision and visual fields was also observed as well as marked variation in retinal function and in disease severity. CONCLUSIONS: Full-field ERGs confirmed that Alström syndrome is associated with a cone-rod type of retinal degeneration. In this study, we have shown a striking variability in retinal function and disease onset and severity, which has, to our knowledge, not been described previously in Alström syndrome. |
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Authors:
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Eva Malm; Vesna Ponjavic; Patsy M Nishina; Jürgen K Naggert; Elizabeth G Hinman; Sten Andréasson; Jan D Marshall; Claes Möller |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Archives of ophthalmology Volume: 126 ISSN: 0003-9950 ISO Abbreviation: Arch. Ophthalmol. Publication Date: 2008 Jan |
Date Detail:
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Created Date: 2008-01-15 Completed Date: 2008-02-05 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 7706534 Medline TA: Arch Ophthalmol Country: United States |
Other Details:
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Languages: eng Pagination: 51-7 Citation Subset: AIM; IM |
Affiliation:
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Department of Ophthalmology, Lund University Hospital, SE-221 85, Lund, Sweden. eva.malm@med.lu.se |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
physiopathology* Child Color Vision Defects / physiopathology DNA Mutational Analysis Electroretinography* Female Hearing Loss, Sensorineural / genetics, physiopathology Humans Mutation Obesity / genetics, physiopathology Perimetry Phenotype Photoreceptor Cells, Vertebrate / physiology* Polymerase Chain Reaction Proteins / genetics Retinitis Pigmentosa / genetics, physiopathology* Syndrome Vision Disorders / physiopathology Visual Fields / physiology |
| Grant Support | |
ID/Acronym/Agency:
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EY08683/EY/NEI NIH HHS; HD036878/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/ALMS1 protein, human; 0/Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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