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Arch Ophthalmol. 2003 Dec;121(12):1738-43.

Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.

Author information

  • 1Departments of Ophthalmology and Medicine, Children's Hospital, New England College of Optometry, Boston, Massachusetts, USA.

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.

PMID:
14662594
[PubMed - indexed for MEDLINE]
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