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

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

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

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 languageEnglish (US)
Pages (from-to)85-91
Number of pages7
JournalDocumenta Ophthalmologica
Volume121
Issue number2
DOIs
StatePublished - 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

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