Conference Roundup
Smith-Lemli-Opitz Syndrome

Promising research findings on antioxidant treatment for SLOS-induced retinal degeneration

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Administering antioxidants to patients with Smith-Lemli-Opitz syndrome (SLOS) may lead to the stabilization and improvement of retinal function over time, according to research presented at the 2023 SLOS Family Medical Conference by Kimberly Christnacht, a first-year medical student at the University of Colorado School of Medicine.

Under the guidance of Ellen R. Elias, MD, Christnacht has been investigating the potential benefits of antioxidant treatment in mitigating retinal degeneration associated with this rare autosomal recessive disease.

The research showed promising results in patients with mild and moderate forms of SLOS, with their retinal function approaching normal values. Although more investigation is needed to identify the most effective antioxidants, this study suggests that vitamin E may play a crucial role in the treatment.

The study involved 9 patients diagnosed with SLOS and their response to antioxidant treatment time.

Patients with mild and moderate forms of SLOS showed improvement in rod function and response towards normal values. Additionally, implicit times for these patients remained within the normal range. In severe cases, while improvements were noted, they were not as significant as in the mild and moderate groups.

Christnacht said that future research needs to analyze the influence of different antioxidants and analyze oxysterol levels to determine if they indeed contribute to the improvement of retinal function.

Christnacht K. Antioxidant Treatment of SLOS and Retina Function Determined by Electroretinography. Presented at 2023 SLOS Family Medical Conference.