EYE CLINIC

RETINITIS PIGMENTOSA | EYE CLINIC - EMMETROPIA

What is retinitis pigmentosa?

 

Retinitis Pigmentosa describes a group of eye conditions that can lead to vision loss.

What is common in these diseases is the deposition of pigment on the retina, something that the ophthalmologist will observe during the fundus examination. In patients with Retinitis Pigmentosa, over time the deposition of pigment causes degeneration and ultimately destruction of the photoreceptors of the eye. This results in the progressive loss of vision.

It is a rare disorder that is transmitted from parent to child. Statistically affects 1 in 4,000 people. About half of people with Retinitis Pigmentosa have a family member who also suffers from the same disease.

 

Symptoms

 

Retinitis Pigmentosa usually begins in childhood. But the exact time the condition will develop, as well as how quickly it develops, varies from person to person. Most people with Retinitis Pigmentosa is more likely that they will lose part of their vision from adulthood. Then, by the age of 40, they are often legally blind.

The retina has two types of photoreceptors (cells that collect light): rods and cones.

Rods are located mainly in the periphery of the retina and help us to see in conditions with dim light as well as in the periphery of our visual field. As Rods are usually affected first, the first symptom a patient may notice is that they need more time to adjust in low light conditions (e.g. when driving at night or when entering a movie theatre, etc.). Peripheral vision may begin to be affected (and eventually lost gradually) simultaneously or immediately after night vision loss. At this stage it is common for the patient to see only centrally, as if seeing through a tunnel - (tunnel vision).

As the condition progresses, so can the cones be affected. This usually makes the work and activities that require detail more difficult, while there may be a reduction in color perception. It is rare, but sometimes the cones are affected first, before the rods.

Photophobia can also be caused by bright lights.

Finally, the patient may see flashes of light that either glow or blink (photopsia).

 

In summary, the most common symptoms of pigmented retinopathy include:

 

• Decreased vision (mainly of the peripheral and advanced stages of the disease and central)
• Difficulty in low light conditions (e.g. in the afternoon or at night) - nocturnal enuresis
• Reduction of color perception
• Photophobia
• Flashes (illuminations)

 

Causes

 

More than 60 different genes have been identified and can cause different types retinitis pigmentosa. Parents can pass on the abnormal genes to their children in three different ways:

 

• Autosomal recessive retinitis pigmentosa: In this case, each parent is a carrier of a normal and abnormal gene that is responsible for the disease but has no symptoms. A child who inherits two abnormal genes (one from each parent) will develop this type of retinopathy. Since two abnormal genes are needed, every child in the family has a 25% chance of being affected
• Autosomal dominant retinitis pigmentosa: This type of retinitis pigmentosa requires only one abnormal gene to develop the disease. A parent with this gene is 50% more likely to pass it on to each child
• Gender-related retinitis pigmentosa: A mother who carries the abnormal gene can pass it on to her children. Each of them has a 50% chance of getting it. Most women who carry the gene have no symptoms (except for about 1 in 5 who have some mild symptoms). Most men who take the gene will have more severe symptoms. Fathers who have the gene cannot pass it on to their children

 

Diagnosis

 

The diagnosis of pigmented retinopathy is made by a complete ophthalmological examination. During examination, the ophthalmologist uses special eye drops to dilate the pupils of the eyes (mydriasis) in order to be able to examine in detail your retina. This dilation can blur the patient's vision for few hours. In addition, some more specialized examinations may need to be done, such as:

 

• Biomicroscopy: The ophthalmologist, after dilating the pupils of the eyes, will examine the back of the eye. In cases of retinitis pigmentosa, there are specific dark spots on the retina
• Visual field examination: During this examination the patient focuses on one point in the center of a machine. At the same time, bright white spots will appear on the periphery and the patient is asked to press a button every time he sees one of them. The result is the creation of a map that captures the patient's peripheral vision
• Electroretinogram(ERG): During this examination, the ophthalmologist with special equipment measures the way in which the retina responds to light flashes
• Genome analysis: The patient gives a DNA sample that is analyzed to diagnose the disease as well as its exact type

 

If you, or someone in your family is diagnosed with pigmented retinopathy, all family members should see an ophthalmologist for a check-up.

 

Treatment

 

There is no cure for retinitis pigmentosa, but research is being done worldwide to find solutions. Some options can slow down vision loss or even restore some vision:

 

• Acetazolamide: In advanced stages of the disease, macular degeneration may develop. In this case, a decrease in vision may be observed. This medicine can make it easier to reduce swelling and improve vision

 

• Vitamin A: High doses of this vitamin may slow down retinitis pigmentosa. But be careful because too much vitamin A can be toxic. If you are following this type of treatment, work closely with your ophthalmologist and follow his instructions carefully

 

• Sunglasses: The use of sunglasses makes the eyes less sensitive to light and protects them from harmful ultraviolet radiation that can accelerate vision loss.

 

• Retinal Implant: In cases of late-stage retinitis pigmentosa, it may be possible to surgically insert an implant into the retina that could provide partial vision. The Argus II system includes an implant that is surgically placed in a single eye and combined with camera-equipped glasses. Images are converted into electrical pulses sent to the retina. The effectiveness of this method varies from person to person

 

• Low vision aids: Low vision aids can help patients see better. Patients, after consultation with their ophthalmologist, may come in contact with an optician for low vision aids that may help the patient to better adapt to the new condition of his vision

 

 

Why Emmetropia

 

At Emmetropia Eye Clinic, we are investing in new technology to ensure that all measurements, examinations, and treatments are performed accurately.

Our medical staff will inform you and advise you in detail on the best possible solution for your case.

At our Clinic there is a special medical retina department that, with the state-of-the-art technology available, can diagnose and monitor serious retinopathies such as Retinitis Pigmentosa. All modern mapping and diagnostic methods are available in Emmetropia to conduct a detailed and thorough investigation of the patient's eye condition.