Retinitis Pigmentosa

1 de noviembre de 2022
4 min de lectura
Retinitis pigmentosa is a group of eye diseases that cause vision loss. It is a rare condition, affecting fewer than 200,000 people in the United States, according to the National Institutes of Health.
Retinitis pigmentosa (RP) is usually a genetic condition, passed down from one generation to the next. The condition develops as the result changes to genes responsible for the structure and function of the light receptor cells in the retina. RP is linked to many different genes, and can be inherited in many ways. Medical professionals categorize retinitis pigmentosa according to the genes affected and the pattern of inheritance. People with retinitis pigmentosa can speak with a genetic counselor to learn more about their risk for passing RP to their children.
RP affects the retina, which is the light-sensitive tissue lining the backside of the eye. Light – and the visual information it carries about the outside world – enters the eye through the pupil and strikes the retina. The retinal tissue absorbs the light and converts the visual information to electrical signals, which travel through the optic nerve to the brain, when then converts the electrical signals into the images we perceive.
Retinitis pigmentosa causes the cells in the retina to gradually deteriorate and die, resulting in the loss of vision. While RP causes significant vision loss, it does not usually cause total blindness. People with advanced retinitis pigmentosa may become legally blind, which means they can see a standard Snellen eye chart from 20 feet away but can only read line 1 (the big E).

Symptoms of Retinitis Pigmentosa

The loss of night vision is the most common early symptom of retinitis pigmentosa, and it typically begins in childhood. Parents may notice that a child with retinitis pigmentosa has trouble adjusting to dim light or moving around in the dark.
RP also causes blind spots peripheral vision, so patients begin having trouble seeing out of the corners of their eyes. Over time, the blind spots merge and their field of vision narrows until they only have some central vision, otherwise known as tunnel vision. Eventually, the disease progresses to affect the retinal cells responsible for central vision, which is what people see when they look straight ahead to read, drive, and recognize faces.
Some people with the condition lose their vision quickly, becoming virtually blind by the time they reach the age of 30. Others retain useful vision until the age of 80 or beyond. The type of vision loss and the speed of vision loss varies from person to person, and depends on the type of RP the person has.
Other symptoms of retinitis pigmentosa include:
  • Sensitivity to bright light
  • Loss of color vision

Diagnosis of Retinitis Pigmentosa

Diagnosis of RP starts with reading a Snellen eye chart to determine how far the patient can see. Next, the eye doctor asks the patient to follow an object with their eyes, tests the pressure inside the eye with a machine that delivers a puff of air, measures the patient’s peripheral vision, and checks how their pupils react to light.
The eye doctor then checks for signs of retinitis pigmentosa during a comprehensive dilated eye exam, which is a simple and painless test. The doctor administers eye drops to widen the pupil so they can see the inside of the patient’s eye and take images of the retina.
The eye doctor may perform electroretinography (ERG) to assess the retina’s response to light. The doctor performs ERG by flashing lights in front of the patient’s eyes then measuring electrical activity in the patient’s retinas to evaluate how well the eyes and brain process the visual information.
Next, the eyecare professional may perform optical coherence tomography (OCT), a non-invasive test that measures the thickness of the retina and analyze the integrity of the retinal tissue. This test involves looking at a target while a special camera captures an image of the back of the patient’s eye. The camera uses light waves to take cross-sectional pictures of the retina.
Eye doctors often do a fundus autofluorescence (FAF) test, which is a non-invasive procedure that can reveal a great deal of information about the health of a patient’s retinas. Eye doctors perform an FAF by using a blue light to take pictures of the retina. This test is useful for the diagnosis, treatment, and monitoring of RP.
Doctors may recommend that patients with RP undergo genetic testing to determine the type of retinitis pigmentosa they have, so that patients may learn how their symptoms may change over time.

Treatment for retinitis pigmentosa

There is no cure for retinitis pigmentosa, but low vision aids and training programs can help people with RP make the most of their vision and prepare for vision loss in the future.
Certain vitamins and supplements can help. Vitamin A may help slow vision loss for those who have some of the more common forms of RP. Taking too much vitamin A may cause liver problems, though, so patients should talk with their doctor about the risks and benefits of this treatment. Fish oil and lutein supplements may also slow down loss of vision.

Sources

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