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Documenta Ophthalmologica

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01-10-2010 | Original research article

Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS)

Authors: Deirdre Garry, Ronald M. Hansen, Anne Moskowitz, Ellen R. Elias, Mira Irons, Anne B. Fulton

Published in: Documenta Ophthalmologica | Issue 2/2010

Abstract

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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Title: Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS)
Authors: Deirdre Garry
Ronald M. Hansen
Anne Moskowitz
Ellen R. Elias
Mira Irons
Anne B. Fulton
Publication date: 01-10-2010
Publisher: Springer-Verlag
Published in: Documenta Ophthalmologica / Issue 2/2010
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-010-9232-3

ACC 2024 Congress

Springer Medicine

Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS)

Abstract

Purpose

Methods

Results

Conclusions

ACC 2024 Congress

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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