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Retinitis Pigmentosa: Causes, Symptoms, Diagnosis and Treatment

Nov 16, 2023

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Causes Of Retinitis Pigmentosa

Symptoms Of Retinitis Pigmentosa

Diagnosis Of Retinitis Pigmentosa

Treatment Of Retinitis Pigmentosa

Retinitis Pigmentosa: Causes, Symptoms, Diagnosis and Treatment

"Retinitis pigmentosa" (RP) is the term for a collection of eye conditions that can cause blindness. What unites them are various alterations observed by the physician in the retina, an assemblage of tissues situated at the back of your eye. Retinal pigment loss (RP) is a condition where the photoreceptor cells in your retina malfunction, ultimately leading to blindness.

It's an uncommon illness that parents may give to their children. Merely 1 person in every 3500 is affected. Roughly 50% of people with RP also have a family member who has the condition.

In the retina, there are two distinct types of light-gathering cells: rods and cones. The rods encircling the retina's outer ring become active in low light. Usually, the first organs impacted by retinitis pigmentosa are the rods. Both night vision and peripheral vision, or the ability to look to the side, disappear.

The central region of the retina contains the majority of cones. They draw your attention to more subtle elements and colors. When RP interferes with color and central vision, you eventually lose these senses.


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Causes Of Retinitis Pigmentosa

Approximately sixty different genes are responsible for the different types of retinitis pigmentosa. Parents may transmit defective genes to their children in three different ways:

  • Autosomal recessive RP: Neither parent shows any symptoms, but both parents carry one defective gene and one normal copy of the affected gene. Two defective copies of the gene, one from each parent, are inherited by a kid with this type of retinitis pigmentosa. Because the faulty gene requires two copies, there is a 25% chance that every child in the family will be affected.
  • For the autosomal dominant form of retinal pigmentosa to develop, only one defective copy of the gene is required. There's a 50% chance that a parent with that gene will pass it on to their offspring.
  • X-linked RP: The disorder may be inherited by children whose mother inherits a defective gene. There's a fifty percent chance that one of them will get it. Most women with the gene will not exhibit any symptoms. But one in five people will only show mild symptoms. Compared to women, men are more likely to experience more severe cases.

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Symptoms Of Retinitis Pigmentosa

Retinal pigmentosa usually first manifests in childhood. The exact beginning time and rate of deterioration, however, vary from person to person. By their early adult years, the majority of RP patients are blind. They are often legally blind by the age of 40.

The inability to adjust to darkness, or "night blindness," swiftly manifests itself since rods are usually affected first. For example, you might notice it when you go from brilliant sunshine to a softly lit theater. You might trip over objects in the dark or be unable to drive at night.

Loss of peripheral vision can happen simultaneously with or soon after deteriorating night vision. One may develop "tunnel vision," which is the inability to look sideways without turning one's head.

Your cones may be affected later. As a result, working with details will be more challenging for you, and you may have issues with color vision. Sometimes, but rarely, the cones die first.

Your doctor may diagnose you with photophobia, a disorder in which bright lights cause you discomfort. You may also start to see bursts of shimmering or flickering light. This is referred to as photopsia.

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Diagnosis Of Retinitis Pigmentosa

The diagnosis of retinitis pigmentosa can be made by your eye doctor or ophthalmologist. They will check your eyes and do the following tests:

  • Ophthalmoscope: The doctor will put drops into your eyes to dilate your pupil to get a better image of your retina. They'll use a small device to look at the back of your eye. If you have retinal pigmentation, specific forms of black patches will appear on your retina (RP).
  • Visual field test: You will focus your attention on a point in the center of a tabletop machine for the visual field test. While you're looking at that location, objects or lights will appear to the side. You'll press a button to indicate how far to the side you can see them when you spot them.
  • Electroretinogram: The doctor of ophthalmology will place a custom-made contact lens or a small coating of gold foil over your eye. Your retina's sensitivity to brief flashes of light will then be measured.
  • Genetic test: A DNA sample will be supplied to determine the type of RP.
  • If you or any other family member is diagnosed with retinitis pigmentosa, you should all get checked by an eye specialist.

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Treatment Of Retinitis Pigmentosa

There is currently no approved treatment for retinal pigmentosa, although doctors are working hard to create new treatments. You can reduce the loss of vision and potentially even partially regain it by making the following choices:

  • Acetazolamide: In the later stages, the small region in the center of your retina can enlarge. Macular edema is the name of this condition, which can also affect vision. This medication can be used to treat vision issues and edema.
  • High doses of vitamin A palmitate may be able to slow down the annual progression of retinitis pigmentosa. But proceed with caution, excess might be dangerous. Pay close attention to your doctor's advice and heed it.
  • Sunglasses: They protect your eyes from UV radiation which can shorten your sight and make your eyes less sensitive to light.
  • Retinal implant: If you have late-stage RP, you may be a candidate for a retinal implant, which could help you regain some of your vision. It is inserted into one eye and worn with glasses designed to accommodate cameras. The retina receives electrical pulses that are generated from pictures. Many could recognize lights and windows. Roughly half of the people could read letters that stood nine inches tall, and some of them could find other people in a room.

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