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

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 bot

SUBMITTER: Garry D 

PROVIDER: S-EPMC2935499 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature