Today, many eye diseases are known. Some of them are acquired, while others are inherited and are diagnosed almost from birth.
In the article we will talk about a disease that belongs to the second group and is called "retinitis pigmentosa". Let's figure out what causes it to appear, and discuss whether there are effective ways to get rid of the problem.
What is retinitis pigmentosa
The disease is a hereditary pathology of the retina, during which dystrophic changes develop in the photoreceptors and the epithelium of the pigment layer and foci are formed like bone bodies.
As a rule, retinitis pigmentosa makes itself felt already at an early age, when the child is not even 8 years old, and then begins to actively progress. This threatens the patient with blindness by the age of 40-60.
Causes of disease development
The main reason for the development of retinitis pigmentosa is a mutation of several genes that are responsible for the synthesis and metabolism of specific proteins during prenataldevelopment.
At the same time, the main ways of developing the disease were identified:
- Gender related. In this case, the pathology is transmitted from mother to son along with the X chromosome.
- Autosomal recessive. Pathology is transmitted to the child simultaneously from two parents.
- Autosomal dominant. Pathology is transmitted from one of the parents of the child.
There are situations when retinitis pigmentosa is diagnosed in patients in whose family the disease has not occurred before. But such cases are isolated. Usually, the pathology is inherited and affects several generations of the family.
Children born in consanguineous marriages are especially at risk, which significantly increases the likelihood of various gene mutations.
Classification of retinitis pigmentosa
Depending on the nature of the course of the disease and the affected areas, there are two forms of the disease:
1. Typical. With this form, visual acuity (both peripheral and central) remains within the normal range for a long time. Although at this moment the rod system is already damaged and foci of pigment accumulation appear in certain areas of the fundus.
2. Atypical. This form has several more varieties:
- Pigmentless retinitis. During this species, there are no pigment bodies in the fundus. At the same time, the rest of the symptoms of the disease are observed.
- Sectoral horseshoe pigmentary retinitis. Photo of the retina showsthe presence of pigment foci concentrated in any one department of the fundus and in combination having the shape of a horseshoe. With this disease, symptoms may be completely absent or their course is very slow.
- White dotted. During this form, multiple white spots are observed in the fundus. The symptoms are the same as during retinitis pigmentosa.
- Inverted. In this type of disease, retinal damage begins from its central part, while affecting the cone system. The process is accompanied by the development of photophobia and a rapid deterioration of central vision.
Signs of disease
With a disease such as retinitis pigmentosa, ophthalmoscopy photos of the eyes show the presence of three characteristic features:
- Atrophy of the retinal pigment epithelium. At the same time, narrowing of the smallest arteries and the appearance of white age spots are observed.
- The optic disc becomes noticeably paler.
- The so-called "bone bodies" appear along the periphery of the fundus and the course of small venous vessels.
Symptoms of disease
What changes are accompanied by retinitis pigmentosa? Symptoms may include:
- impaired twilight vision ("night blindness") as a result of degenerative phenomena in the retina;
- intolerance to bright light;
- blurred vision;
- decrease in peripheral vision;
- difficulty in adjusting the eyes to a dark room after a light one, andvice versa;
- nyctalopia.
Atypical forms may additionally be accompanied by photophobia and decreased color vision.
Diagnosis of disease
Retinitis pigmentosa is diagnosed by an ophthalmologist. This happens on the basis of anamnesis, during which it turns out whether at least one of the closest relatives had a similar disease. Additionally, the dynamics of photoreceptor cell loss is being studied using electroretinography and visual testing.
The presence of pigmented lesions characteristic of retinitis can be detected through ophthalmoscopy and a photograph of the fundus.
Detect the presence of fundus defects, as well as the presence of atrophy of the pigment epithelium and edema in the macula area, using retinal fluorescein angiography (FAG).
In addition, color vision, dark adaptation and contrast sensitivity level are determined.
Treatment of retinitis pigmentosa
Is it possible to get rid of such a disease as retinitis pigmentosa? The treatment that has been developed to date, unfortunately, is not able to completely get rid of the problem. The only way doctors can help is to remove some of the symptoms of the disease.
In the presence of macular edema, diuretics are prescribed, which include carbonic anhydrase inhibitors.
Clouding of the lensremoved with the help of surgery.
For photocoagulation of vessels, doctors recommend taking vascular pharmacological preparations.
In addition, vitamin therapy is carried out with an emphasis on taking nicotinic acid. There is also an opinion that the process of vision deterioration can be slowed down by increasing the intake of vitamin A, which can be found in many dietary supplements.
Additionally, patients are advised to wear special dark glasses that will absorb short-wave solar radiation. This will help protect the retina from damage.
The above therapy will help to minimize the rate of progression of a disease such as retinitis pigmentosa. Treatment with folk remedies in this case can only be used in the form of following a specially designed diet, which provides for a minimum amount of purine compounds and cholesterol in food. In addition, it is advisable to include blueberries in your diet, as they are a natural antioxidant and a source of vitamin A.
Another way to get rid of such a problem as retinitis pigmentosa is stem cell treatment. This method is currently under active development, but scientists promise that in the future it will be actively practiced and used in combination with other components of therapy.
The principle of this type of treatment will be as follows. Retinal cells will be grown from stem cells with a he althy gene in special laboratories. Then they will be implantedpatients with retinitis pigmentosa to restore their vision. In this case, the immune system will in no case reject the implant, since it will be made from the patient's own stem cells.
And although it is still far from the moment when this method will be used in the treatment of eye diseases, today the first steps have already been taken towards achieving the cherished goal.
Ways to prevent the development of the disease
Since retinitis pigmentosa in most cases occurs at the gene level, unfortunately, it will not be possible to avoid its manifestation. The only thing that a patient can do in such a situation is to slow down the development of the problem as much as possible and delay the onset of blindness.
For this, it is important to register with an ophthalmologist, visit him regularly and listen to all the recommendations. Do not refuse to wear special protective glasses that will protect the retina from the negative effects of bright light.
Those who like to read should choose the most convenient font that does not require eye strain.
Be he althy!
