Retinitis pigmentosa: symptoms, treatment

To date, many eye diseases are known. Some of them are of acquired character, while others are inherited and diagnosed almost from birth.

In the article, let's talk about a disease that belongs to the second group and is called "retinitis pigmentosa." We will understand what causes provoke his appearance, 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 the photoreceptors and epithelium of the pigment layer develop dystrophic changes and form foci according to the type of bony bodies.

As a rule, pigmentary retinitis makes itself felt at an early age, when the child is not even 8 years old, and then begins to actively progress. It threatens the patient with blindness to 40-60 years.

Causes of the disease

The main reason for the development of pigment retinitis is the mutation of several genes that are responsible for the synthesis and exchange of specific proteins during intrauterine development.

At the same time, the main ways of the disease development are revealed:

1. Correlated with sex. In this case, the pathology is transmitted from mother to son along with the X chromosome.
2. Autosomal recessive. Pathology is transmitted to the child at the same time from two parents.
3. Autosomal dominant. Pathology is transmitted from one of the parents of the child.

There are situations when retinitis pigmentosa is diagnosed in such patients whose family has not had the disease before. But such cases are rare. Usually pathology is inherited and affects several generations of the family.

Children born in intimate relationship are especially at risk, when the probability of various gene mutations increases significantly.

Classification of retinitis pigmentosa

Depending on the nature of the course of the disease and affected areas, there are two forms of the disease:

1. Typical. With this form of visual acuity (both peripheral and central) for a long time remains within the norm. Although at this point the defeat of the rod system and the appearance of foci of accumulation of pigment in certain areas of the fundus are already taking place .

2. Atypical. This form has several more varieties:

• Bleaching pigmentation retinitis. During this species, there are no pigmented corpuscles on the fundus. At the same time, the rest of the symptomatology of the disease is observed.
• Sectoral horseshoe-shaped retinitis pigmentosa. A photo of the retina shows the presence of pigmented foci concentrated in any one part of the fundus and in combination of a horseshoe-shaped one. With this disease, symptoms may be completely absent or their very slow course is observed.
• White-spot. During this form, multiple white spots are observed on the fundus. The symptomatology is the same as during pigment retinitis.
• Inverted. In this type of disease, the retinal lesion begins with its central part, affecting the cone system. The process is accompanied by the development of photophobia and rapid deterioration of central vision.

Symptoms of the disease

With such a disease as retinitis pigmentosa, the photo of the eyes obtained during ophthalmoscopy shows the presence of three characteristic features:

1. Atrophy of retinal pigment epithelium. In this case, narrowing of the smallest arteries and appearance of white pigment spots are observed.
2. The disc of the optic nerve becomes noticeably paler.
3. On the periphery of the fundus and the course of small venous vessels appear the so-called "bone bodies".

Symptoms of the disease

What changes are accompanied by retinitis pigmentosa? Symptoms can be the following:

• Violation of twilight vision ("night blindness") as a result of dystrophic phenomena in the retina of the eye;
• Intolerance to bright light;
• Blurred vision;
• Decreased peripheral vision ;
• Difficulty in getting used to the dark room after the light, and vice versa;
• Niktalopia.

Atypical forms can additionally be accompanied by photophobia and reduced color vision.

Diagnosis of the disease

Diagnosis of pigment retinitis is conducted by an ophthalmologist. This happens on the basis of an anamnesis, during which it is determined whether there was such a disease at least one of the next of kin. In addition, the study of the dynamics of photoreceptor cell loss by means of electroretinography and visual testing is carried out.

The presence of retinitis-specific pigment foci can be detected through ophthalmoscopy and the photo of the fundus.

Identify the presence of defects in the fundus, as well as the presence of atrophy of pigment epithelium and edema in the macula can be done by fluorescent angiography of the retina (FAH).

In addition, color vision, dark adaptation and contrast sensitivity level are determined.

Treatment of retinitis pigmentosa

Can I get rid of such a disease as retinitis pigmentosa? The treatment, which has been developed to date, unfortunately, is not able to completely eliminate the problem. The only thing doctors can help is to remove some symptoms of the disease.

In the presence of macular edema, diuretics are prescribed, including carbonic anhydrase inhibitors.

Opacification of the lens is removed by surgery.

For photocoagulation of blood vessels, doctors recommend the use of vascular pharmacological drugs.

In addition, there is a vitamin therapy with an emphasis on nicotinic acid. There is also an opinion that the process of visual impairment can be slowed down by increasing the intake of vitamin A, which can be found in a variety of bioadditives.

In addition, patients are advised to wear special dark glasses that will absorb solar shortwave radiation. This will help protect the retina from damage.

The above therapy will help to minimize the rate of progression of such a disease as retinitis pigmentosa. Treatment with folk remedies in this case can be applied only in the form of compliance with a specially developed diet, which provides for a minimum amount of purine compounds and cholesterol in food. In addition, it is desirable to include in your diet blueberries, as it is a natural antioxidant and a source of vitamin A.

Another way to get rid of such a problem, as retinitis pigmentosa, is stem cell therapy. This method is now in active development, but scientists promise that in the future it will begin to be actively practiced and applied in combination with other components of therapy.

The principle of this type of treatment will be as follows. From stem cells with a healthy gene in special laboratories will begin to grow retinal cells. Next they will be implanted with patients with retinitis pigmentosa for the return of their vision. In this case, the immune system does not in any case reject the implant, since it will be made from the patient's stem cells.

And although until the moment when this method will be used in the treatment of eye diseases, it is still far, today the first steps have already been taken to achieve the cherished goal.

Methods for preventing the development of the disease

Since retinitis pigmentosa occurs in most cases at the genetic 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 process of development of the problem as much as possible and delay the onset of blindness.

For this it is important to register with an ophthalmologist, regularly visit him and listen to all the recommendations. Do not give up wearing special goggles that will protect the retina from the negative effects of bright light.

Those who like to read, you need to choose the most convenient font, not requiring eye strain.

Be healthy!