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Retinopathy pigmentosa leads to loss of vision

Retinopathy pigmentosa: Signs, Diagnosis, Treatment and Prevention

Retinopathy pigmentosa: Signs, Diagnosis, Treatment and Prevention

When the visual cells perish: in the case of hereditary eye disease retinopathy pigmentosa, sense cells gradually disappear on the retina, and vision changes. The first symptom is often the night blindness. In the later stage, only one spot remains in the middle of the face, blindness is also possible. There is no cure yet. 

Retinopathy pigmentosa (RP) is a hereditary conditional eye disease. Approximately 40,000 affected persons live in Germany, and there are about three million cases worldwide. This is the most common cause of blindness. The cause of RP is genetic: if certain genes are altered, the disease can break out. The gene is inherited in a recessive manner. This means that both parents each carry at least one degenerate gene so that the disease breaks out in the child. In doing so, the parents need not necessarily be sick, they can be “only” transplant. A spontaneous mutation of the genes can also lead to RP.

Retinopathy pigmentose: Rods die

In the retinopathy pigmentosa sense, cells are gradually destroyed in the eye. In doing so, the rods are destroyed first. They are mainly located at the edges of the retina and are responsible for the perception of brightness and contrast. A first noticeable symptom may, therefore, be a worse perception at night. Light sensitivity also occurs. Affected need significantly longer to adjust itself to new exposure situations. Since the ability to perceive colours is due to the function of the cones in the center of the retina, there are at first no restrictions.

Gradually more and more sensory cells perish in the eye. But the person concerned does not need to notice this immediately. Because the brain completes the missing information from memories and creates an intact image. Objects on the edge of the face are less and less perceived, causing frequent stumbling or stinging of objects. The center of the facial area is not affected, so faces are recognized and reading the newspaper is not a problem for many patients.

Typical symptom: the tunnel vision

In an advanced disease stage, the patient only recognizes the middle area of the facial field. What he sees can be compared with the view through a narrow pipe. It may be that a blindstock is necessary for the orientation in the room, but the reading of a magazine still works perfectly. In some patients the visual acuity is also affected, they then look increasingly fuzzy with progressive disease. The visual impairment can, however, also be performed from the center. We then speak of an inverse retinopathy pigmentosa.

In some patients, the opacity of the ocular lens (cataract) is a symptom of RP.

The disease progresses step by step. Many patients become blind during their life. One way to cure the disease is not yet. Researchers are currently working on a chip that is transplanted into the retina and which is intended to restore or at least improve optical perception.

Diagnosis Retinopathy pigmentosa

If a worsening night blindness occurs and things are always overlooked at the edge of the facial field, an ophthalmologist must be consulted. An ordinary eye test does not give any indication of the disease since it is aimed at visual acuity. More important is the facial field examination. Here, a ring-like zone can be found in RP, in which vision is strongly impaired. Also a test for night blindness can provide a first indication of RP.

If the eye background is then examined more closely, the doctor will notice the typical degeneration of the visual cells. By means of a subsequent DNA analysis, it is possible to determine on which gene the defect lies and whether further genetic diseases are to be expected.

The retinopathy pigmentosa resembles a macular degeneration. The diagnosis should, therefore, be precisely delimited in order to be able to treat the patient appropriately. In the case of the so-called pseudo-reginitis pigmentosa, the symptoms of RP occur, but there is no genetic defect. Inflammations, injuries, tumours or the side effects of medications can be responsible for this.

Therapy of visual disturbance: tools facilitate everyday life

Although a cure is not yet possible, the patients can make their daily routine a little more normal. A blindstock is used for orientation in the room, an ultrasound device can detect objects in the surrounding area. Specially tinted spectacles protect the eyes from UV rays and further damage. By taking vitamin A, the progress of the disease can be slowed down in some cases.

If a child is already diagnosed with RP, it is important to prepare the affected person for a life with impaired vision. The illness can lead to an extended schooling. When choosing a career, the suffering must be taken into account – the job should also be exercised with a reduced vision. The exchange with other interested parties can help to master the handling of the RP and to process the loss of vision.

The association Pro Retina advises affected persons and their relatives on all topics related to the disease.

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