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Ellen R. Elias, MD; Ronald M. Hansen, PhD; Mira Irons, MD; Nicole B. Quinn, OD; Anne B. Fulton, MD

Arch Ophthalmol. 2003;121:1738-1743.

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.

From the Coordinated Care Service (Dr Elias) and the Departments of Ophthalmology (Drs Hansen and Fulton) and Medicine (Genetics) (Dr Irons), Children's Hospital, and the Department of Specialty and Advanced Care, New England College of Optometry (Dr Quinn), Boston, Mass. Dr Elias is now with the Division of Pediatrics and Genetics, Children's Hospital, Denver Colo. The authors have no relevant financial interest in this article.

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