To date, many eye diseases are known. Some of them are acquired in nature, while others are inherited and diagnosed almost from birth.
In the article, we will talk about a disease that belongs to the second group and is called "retinitis pigmentosa." We will examine what causes its 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 dystrophic changes occur in the photoreceptors and pigment layer epithelium and foci form like bone cells.
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 40-60 years.
Causes of the disease
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 intrauterine development.
In this case, the main pathways for the development of the disease were identified:
- Corresponding to the floor. 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 such 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 a close-blooded marriage are at particular risk, in which the likelihood of a variety of gene mutations is significantly increased.
Classification of retinitis pigmentosa
Depending on the nature of the course of the disease and the affected areas, two forms of the disease are distinguished:
1. Typical. With this form, visual acuity (both peripheral and central) for a long time remains within normal limits. Although at this point, the rod system is already affected and the appearance of foci of pigment accumulation in certain areas of the fundus.
2. Atypical. This form has several more varieties:
- Pigmentless retinitis. During this species, pigmented corpuscles are absent on the fundus. However, all the remaining symptoms of the disease are observed.
- Sectoral horseshoe retinitis pigmentosa. A retinal photo shows the presence of pigment lesions concentrated in any one part of the fundus and in combination having a horseshoe shape. In this disease, the symptoms may be completely absent or their course may be very slow.
- White point. During this form, multiple white spots are observed on the fundus. The symptoms are the same as during retinitis pigmentosa.
- Inverted. In this type of disease, retinal damage begins from its central part, affecting the cone-shaped system. The process is accompanied by the development of photophobia and a rapid deterioration in central vision.
Signs of the disease
With a disease such as retinitis pigmentosa, eye photos obtained during ophthalmoscopy show the presence of three characteristic signs:
- Atrophy of retinal pigment epithelium. In this case, a narrowing of the smallest arteries and the appearance of white age spots are observed.
- The optic disc becomes noticeably paler.
- Along the periphery of the fundus and the course of small venous vessels, so-called "bone bodies" appear.
Symptoms of the disease
What changes are accompanied by retinitis pigmentosa? Symptoms may include the following:
- impaired twilight vision ("night blindness") as a result of degenerative phenomena in the retina;
- intolerance to bright light;
- blurred vision;
- decreased peripheral vision ;
- difficulties in getting the eyes used to the dark room after being lit, and vice versa;
- nictalopia.
Atypical forms may additionally be accompanied by photophobia and a decrease in color vision.
Diagnosis of the disease
Diagnosis of pigment retinitis is carried out by an ophthalmologist. This happens on the basis of a medical history, during which it turns out whether at least one of the closest relatives had such a disease. Additionally, the study of the dynamics of photoreceptor cell loss is carried out using electroretinography and visual testing.
The presence of pigmented lesions characteristic of retinitis can be detected through ophthalmoscopy and a photo of the fundus.
The presence of defects in the fundus, as well as the presence of atrophy of the pigment epithelium and edema in the macular region, can be done using fluorescence retinal angiography (FAG).
In addition, color vision, dark adaptation and the level of contrast sensitivity are determined.
Retinitis Pigmentosa Treatment
Is it possible to get rid of a disease such as retinitis pigmentosa? The treatment that 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, which include carbonic anhydrase inhibitors.
The clouding of the lens is removed by surgery.
For photocoagulation of blood vessels, doctors recommend taking vascular pharmacological preparations.
In addition, vitamin therapy is carried out with an emphasis on nicotinic acid intake. 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 many dietary supplements.
In addition, patients are advised to wear special dark glasses that will absorb solar short-wave radiation. This will help protect the retina from damage.
The above therapy will help 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 it is a natural antioxidant and a source of vitamin A.
Another way to get rid of a problem like retinitis pigmentosa is with stem cell treatment. This method is currently under 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. Retinal cells will begin to grow from stem cells with a healthy gene in special laboratories. Then they will be implanted in patients with retinitis pigmentosa to return their vision. In this case, the immune system in no case will reject the implant, since it will be made from the stem cells of the patient himself.
And although the moment when this method begins to be used in the treatment of eye diseases is still a long way off, the first steps have already been taken to achieve 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 process of the development of the problem and delay the onset of blindness.
To do this, it is important to register with an ophthalmologist, visit him regularly and listen to all the recommendations. Do not refuse to wear special safety glasses that will protect the retina from the negative effects of bright light.
Those who like to read need to choose the most convenient font that does not require eye strain.
Be healthy!