| Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). | |
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MedLine Citation:
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PMID: 20440536 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To evaluate cone and cone-driven retinal function in patients with Smith-Lemli-Opitz syndrome (SLOS), a condition characterized by low cholesterol. Rod and rod-driven function in patients with SLOS are known to be abnormal. METHODS: Electroretinographic (ERG) responses to full-field stimuli presented on a steady, rod suppressing background were recorded in 13 patients who had received long-term cholesterol supplementation. Cone photoresponse sensitivity (S(CONE)) and saturated amplitude (R(CONE)) parameters were estimated using a model of the activation of phototransduction, and post-receptor b-wave and 30 Hz flicker responses were analyzed. The responses of the patients were compared to those of control subjects (N = 13). RESULTS: Although average values of both S(CONE) and R(CONE) were lower than in controls, the differences were not statistically significant. Post-receptor b-wave amplitude and implicit time and flicker responses were normal. CONCLUSIONS: The normal cone function contrasts with the significant abnormalities in rod function that were found previously in these same patients. Possibly, cholesterol supplementation has a greater protective effect on cones than on rods as has been demonstrated in the rat model of SLOS. |
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Authors:
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Deirdre Garry; Ronald M Hansen; Anne Moskowitz; Ellen R Elias; Mira Irons; Anne B Fulton |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural Date: 2010-05-04 |
Journal Detail:
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Title: Documenta ophthalmologica. Advances in ophthalmology Volume: 121 ISSN: 1573-2622 ISO Abbreviation: Doc Ophthalmol Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-17 Completed Date: 2011-01-13 Revised Date: 2012-04-27 |
Medline Journal Info:
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Nlm Unique ID: 0370667 Medline TA: Doc Ophthalmol Country: Netherlands |
Other Details:
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Languages: eng Pagination: 85-91 Citation Subset: IM |
Affiliation:
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Department of Ophthalmology, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Child, Preschool Cholesterol / blood Electroretinography* Female Humans Male Retinal Cone Photoreceptor Cells / physiology* Smith-Lemli-Opitz Syndrome / physiopathology* Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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M01-RR02172/RR/NCRR NIH HHS; R01 EY010597-15/EY/NEI NIH HHS; R01EY010597/EY/NEI NIH HHS |
| Chemical | |
Reg. No./Substance:
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57-88-5/Cholesterol |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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