Retinitis pigmentosa: causes, symptoms and treatment

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The term retinitis pigmentosa (RP) refers to a category of rare diseases it happens to the retina, a thin layer of tissue at the back of the eye that helps turn light into signals that are sent to your brain. When you have RP, the cells in your retina break down over a long period of time, which can make it harder for you to see.

Most people with RP are born with it because it is a genetic condition that is passed down in families. You may not notice the most obvious symptoms of RA until later in childhood. But the symptoms often become more noticeable with age and lead to significant vision loss over time.

There is currently no cure for RP, but there are many options to help you improve your vision and practice using your vision in a way that accommodates your vision loss. Read on to learn more about the causes, symptoms, and treatments for this condition.

RP doesn’t yet have a clear cause, but it results from mutations or differences in genes that affect the photoreceptor cells in your retina. These cells are responsible for helping you see colors and adapt to low light.

PsA damages these cells, which can prevent you from seeing for the rest of your life. But researchers and doctors don’t know exactly what triggers these changes in your genes.

Some research suggests that RP can also result from:

  • Medications : A research report 2019 have shown that drugs called phosphodiesterase type 5 inhibitors, such as sildenafil (Viagra), may be linked to worsening of conditions such as RP in people who may have genetic mutations that increase their risk of developing RP. PR.
  • Infections: RP involves a RPGR gene mutation. An upper respiratory infection, such as chronic sinusitis, can trigger the gene, leading to symptoms of RP.
  • Eye injuries: A 2012 study suggested that injuries to the eye can lead to long-term retinal damage, which can lead to the onset of RP symptoms.
  • Other genetic conditions: Uscher syndrome is another genetic condition commonly associated with RP and other symptoms such as deafness or difficulty staying balanced while walking.

Symptoms of RP usually become noticeable when you are still young.

While some people with RP may experience a slow progression of symptoms, RP symptoms can also appear without warning and progress rapidly, especially as you get older.

Here are some of the most common symptoms of RP:

  • significant vision loss at night or in low light, even when your vision during the day or in bright lights seems to stay the same
  • difficulty adjusting the eyes when moving from environments with bright light to environments with dim lighting or no light at all
  • peripheral vision loss, which involves loss of vision along the top and bottom edges and left and right sides of your visual field
  • the field of vision narrows until you can only see what is directly in front of you
  • difficulty seeing differences between colors
  • difficulty seeing in bright lights or becoming very sensitive to bright lights

Experts currently don’t know exactly how many people with RA will experience total blindness over time. But most people with RP will experience some form of partial vision loss, including loss of night vision, sometimes called night blindness.

People with Usher syndrome may have a much higher risk of vision loss over time due to RP. Usher syndrome is another rare condition that can cause vision loss, hearing loss, and balance problems.

Almost 50% blind and deaf people have Usher syndrome. Many people with Usher syndrome type 3 may go completely blind during their adult life.

There is currently no cure for RP. But you can treat the symptoms of RP to help you adjust to your gradual vision loss or difficulty seeing in different light levels.

Here are some treatments and lifestyle changes you can try to help reduce the impact of RP on your daily life:

  • Contact an eye care professional: An ophthalmologist or optometrist can help you decide what your prescription is and find glasses to help you see better.
  • Take supplements: These may include vitamin A, fish oil or lutein to help keep your eyes healthy – just be sure to ask a doctor or eye specialist if these supplements can increase your risk of liver disease or other side effects.
  • Consume turmeric in your diet: Turmeric contains a substance called curcumin which can help slow the process of vision loss.
  • Try glasses with anti-reflective coatings: Use glasses or sunglasses with any features that can help reduce the intensity of bright lights.
  • Use adjustable lighting: Using light bulbs or fixtures with adjustable or dimmable light controls can create a comfortable viewing environment at home or at work.
  • Use a magnifying device: This can help when reading small print.
  • Increase the size and thickness of text on screen: Your computer or mobile device’s accessibility settings and features can help you do this.
  • Rearrange your furniture: Rearranging furniture at home and at work can help you have clear, wide spaces to walk around in and less chance of bumping into things that can cause frustration or injury.

There is currently no cure for RP. But there are promising clinical trials on the horizon that look closely at the genes that drive RP.

First, talk to a genetic counselor to analyze your genome to better understand the mutations in your genes that cause RP. Affected genes influence possible future treatments. Genes that RP can affect include:

  • RPE65: Researchers are currently studying a drug called voretigene neparvovec-rzyl (Luxturna) that may help replace the RPE65 gene that helps the retina detect light.
  • RRP: A doctor or surgeon removes the glassy, ​​jelly-like fluid in your eye and injects new versions of the RPGR gene to improve your retina function.
  • USH2A: People with Usher syndrome may benefit from a treatment called QR-421a, which researchers are currently studying. This injection can help improve your eyesight by replacing mutations in the USH2A gene that do not produce the USH2A protein.

Another experimental treatment includes a pair of glasses that gives you optogenetic therapy – with an injection, this treatment helps replace your retina’s function of detecting light and seeing contrasts between objects.

RP is a genetic disease passed down in families. It has no clear cause, and medications, infections, or eye damage trigger it.

Talk to a doctor if you are concerned about developing RP or if you notice symptoms of RP, such as loss of vision or sensitivity to light, that interfere with your daily life.

If you are a parent with RP, you can also meet with a genetic counselor, who can perform tests to see if you can pass the genes on to your children.

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