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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 85-91 |
| Number of pages | 7 |
| Journal | Documenta Ophthalmologica |
| Volume | 121 |
| Issue number | 2 |
| DOIs | |
| State | Published - Oct 2010 |
Keywords
- Adolescent
- Child
- Child, Preschool
- Cholesterol/blood
- Electroretinography
- Female
- Humans
- Male
- Retinal Cone Photoreceptor Cells/physiology
- Smith-Lemli-Opitz Syndrome/physiopathology
- Young Adult