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Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Elias, Ellen Roy Hansen, Ronald M. Irons, M. Quinn, Nicole B. Fulton, Anne B. |
| Copyright Year | 2003 |
| Abstract | OBJECTIVE To test the hypothesis that the kinetics of activation and deactivation of rod phototransduction are altered in children with Smith-Lemli-Optiz syndrome (SLOS), a common genetic disorder caused by an inborn error in cholesterol biosynthesis. METHODS Thirteen patients with SLOS (median age, 4 years) were studied by means of scotopic full-field electroretinography. The kinetics of activation and deactivation of rod phototransduction were derived from the electroretinographic a-wave. Postreceptoral electroretinographic components were also evaluated. RESULTS The kinetics of activation were below normal limits in all but 3 of the 13 patients. Rod cell recovery (deactivation) in SLOS was slower than normal in all 8 patients in whom it was studied. Postreceptoral sensitivity was below normal limits in all but 1 of the 13 patients. CONCLUSIONS The kinetics of phototransduction are slow in children with SLOS. This is likely a consequence of altered sterol composition in the cell membranes of the rod photoreceptors. To our knowledge, this is the first demonstration of altered kinetics of a membrane-bound signaling system in SLOS. Investigation of other membrane-bound signaling systems may be warranted in the quest to understand development and phenotype of individuals with SLOS. |
| Starting Page | 145 |
| Ending Page | 173 |
| Page Count | 29 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://archopht.jamanetwork.com/journals/ophth/articlepdf/415926/ecs20255.pdf |
| Alternate Webpage(s) | https://archopht.jamanetwork.com/journals/OPHTH/articlepdf/415926/ecs20255.pdf |
| PubMed reference number | 14662594v1 |
| Volume Number | 121 |
| Issue Number | 12 |
| Journal | Archives of ophthalmology |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Cholesterol Cone-Rod Dystrophies Electroretinography Hereditary Diseases Kinetics (discipline) Leukemia, B-Cell Light Signal Transduction Patients Photoreceptors Plasma membrane Smith-Lemli-Opitz Syndrome Tissue membrane |
| Content Type | Text |
| Resource Type | Article |
