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Aurora magazine

Smith-Lemli-Opitz syndrome: anti-oxidants against blindness

In individuals with Smith-Lemli-Opitz syndrome, antioxidants help fight loss of vision. The discovery comes from the Jacobs School of Medicine and Biomedical Sciences. Researchers have added antioxidants to the standard therapy of some diseased guinea pigs. According to the first data, the addition would stop the retinal degeneration of the genetic disease.

Smith-Lemli-Opitz syndrome (SLO) is incapable of producing cholesterol. This causes a series of cognitive and physical abnormalities, including the progressive loss of sight. Researchers have found a way to prevent at least this last symptom. In animal models treated with the new approach, they avoided the appearance of retinal degeneration.

To date, SLO therapy provides for the treatment of individual symptoms. In addition to this, doctors are used to prescribe cholesterol supplements. In some cases, this is enough to prevent the disease from moving from the nervous system to the eyes, the heart and other organs. The results vary however from case to case. According to the authors of the study, the variant could be in the degree of oxidation of a specific molecule.

To test their hypothesis, the researchers blocked the oxidation of the molecule in some guinea pigs. In addition to standard therapies, they gave them antioxidants. Mice treated this way showed a marked improvement in retinal degeneration. The result is promising, but before going to humans, other studies will be needed.

Source: medicine.buffalo.edu