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Retinitis Pigmentosa

Your retina contains photoreceptors (rods and cones) that convert light coming into your eyes into electrical signals that travel from the optic nerve to the brain so you can process the images. If there is a breakdown in these cells, your vision will be interrupted. 

Retinitis pigmentosa (RP) is a group of genetic disorders that occurs when there are changes in the genes that help your photoreceptor cells make the necessary proteins to function properly. This causes the photoreceptor cells to deteriorate or mutate. Rods are typically affected first, leading to night blindness and loss of vision. As the cones become affected, it will become more challenging to perform normal daily tasks, see color or recognize people or objects. 

Symptoms of Retinitis Pigmentosa

Because this is a genetic disorder, people are born with RP. Children may find it hard to maneuver in dark environments, they may be clumsy, they may be sensitive to lights and may have trouble adjusting to changes in lighting. The severity of vision problems will vary from person to person, but RP patients can expect to experience gradual worsening of these symptoms: 

  • Loss of peripheral (side) vision
  • Poor night vision
  • Limited vision in dim/dark environments
  • Tunnel vision
  • Blindness

Risk Factors for Retinitis Pigmentosa

While rare, this disorder can be inherited from parents who pass mutant genes to their children. Not all children will end up having the disorder or being a carrier of the gene (able to pass it down to their own future children). There are several different ways to inherit RP: 

  • Autosomal recessive inheritance: 2 copies of the mutant gene are necessary to have the disorder or become a carrier
  • Autosomal dominant inheritance: 1 copy of the mutant gene is necessary to have the disorder
  • X-linked inheritance: passed down by the mother with the mutated gene in one X chromosome, often causing the son to develop the disorder while daughters may become a carrier

Treatment for Retinitis Pigmentosa

RP is estimated to affect 1 in 4,000 people worldwide. Unfortunately, there is no cure for this disorder. People with RP can learn to live with the condition with low vision aids such as magnifying lenses, portable lighting devices, mobility training, guide dogs, etc. Vitamin treatments may also be helpful in slowing the progression of the disorder. 

If you or your child has been diagnosed with RP, our doctors can help you make sense of this disorder and learn ways to cope. Contact us today to schedule a comprehensive eye exam. 

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12110 Sunset Hills Rd., Suite 50 LL
Reston, VA 20190

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