Genetic testing can give us valuable information about age-related macular degeneration, but it’s also helpful for determining how genetics contribute to middle-age vision loss. Researchers at the University of Edinburgh studied the gene RPGR to see how it relates to X-linked retinitis pigmentosa. Retinitis pigmentosa causes chemical changes in the eye that usually begin with a loss of night vision starting as early as childhood. Over time, the disease leads to blind spots then tunnel vision and eventually blindness.

In the University of Edinburgh study, Dr. Roly Megaw and his colleagues took skin cells from two patients and transformed the stem cells into photoreceptors (light-sensing eye cells). The photoreceptors were then compared to photoreceptors of healthy relatives. The photoreceptors’ structure was found to be fundamentally different from the structure of the cells belonging to healthy family members due to retinitis pigmentosa which causes photoreceptors to decay over time.    

The study found that RPGR damages eye cells to cause X-linked retinitis pigmentosa which is incurable and left untreated will eventually cause blindness in middle age. Further studies were conducted with mice that identified key molecules that interact with RPGR to maintain photoreceptors. Researchers hope that by studying the RPGR gene and its behaviors, they will one day be able to develop a cure for X-linked retinitis pigmentosa.

While retinitis pigmentosa currently has no cure, vitamins have been identified as aiding in the treatment of this devastating disease. A combination of Vitamin A, fish oil, and lutein may be helpful in slowing vision loss. Because retinitis pigmentosa is hereditary, if you have retinitis pigmentosa and plan to have children you may want to speak with a genetic counselor about the likelihood of passing this disease to the next generation.

This new insight into genetic contributions is promising for the eye care field. Researchers have been studying gene therapy as a way to restore vision loss for a number of years and discovering new ways genes behave will help further this research as well. Recent studies on gene therapy for improving vision loss have focused on inherited retinal diseases. The goal of this research is to create a functioning copy of the faulty gene. Once the gene is copied and functioning, it’s mutated so it will start producing the necessary cellular materials, like protein, needed to repair vision.

Other treatment options include stem cell injections into the eye and biomedical implants. Stem cells can form into any other type of cell in the body so this treatment is based on the premise that the stem cells will form new photoreceptors. Biomedical implants work to treat blindness by replacing flawed photoreceptors with tiny microchips that collect or amplify light.

The research on gene therapy is promising and while we can’t cure blindness at EyeCare 20/20, we can help you drastically improve your vision and take the necessary steps to keep your eyes as healthy as possible. Many eye diseases have no symptoms but can be detected through routine eye exams. Contact us today to learn more.

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