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Retinitis pigmentosa, or retinitis pigmentosa, is a progressive eye disease that leads to irreversible degradation of the retina. If quickly undiagnosed and if left untreated, it can lead to blindness. How do you recognize the symptoms of retinitis pigmentosa? How is her treated? What is the inheritance of this eye disease?

Retinitis pigmentosa , orretinitis pigmentosa( retinitis pigmentosa ), is a disease, the essence of which is the deposition of dye in the retina of the eye. The human eye's retina consists of two types of photosensitive receptor cells: suppositories and rods. They reproduce by partial growth, which means that the used parts of the cells are discarded and absorbed by special cells at the bottom of the retina. This process is disturbed in the course of the disease. The discarded cells are not absorbed, but accumulate on the retina, forming pigment clusters in the form of bone cells. As a result of the deposition of pigment in the retina of the eye, circulation within the retina is disturbed, and thus - its gradual degradation.

Regardless of age, pigmentary degeneration of the retina occurs in about 1 in 4,000 people, and in the 45-64 age group it occurs in 1 in 3,195 people.

Retinitis pigmentosa - causes and inheritance

Pigmented retinopathy is in most cases hereditary, although very rarely its symptoms may appear in families where no one has had the disease before.

There are three types of inheritance of pigmentary retinopathy:

  • autosomal dominant inheritance (30-40% of cases) - the presence of only one damaged (mutated) gene is enough to develop the disease. The disease inherited in this way is usually milder, has a slow progression and allows you to maintain good vision until the fifth or sixth decade of life
  • autosomal recessive inheritance (50-60% of cases) - disease requires the presence of two mutated genes. If a person has only one damaged gene of this type, then the disease does not show symptoms.
  • X-linked inheritance (5-15 percentcases) - only boys are ill. The mother is only a carrier of the defective gene, and daughters, if they inherit the damaged gene, are also only carriers of the defective gene. This form of inheritance is the most unfavorable, because central vision is lost around the age of 30

Pigmented Retinopathy - Symptoms

In the course of retinitis pigmentosa, vision in the dark gradually deteriorates, there are problems with adapting to the dark, or difficulty seeing in poor lighting. At the same time, peripheral vision is disturbed, which can lead to the so-called vision, i.e. only central vision is preserved, similar to looking through a keyhole. Consequently, people who develop the disease must constantly turn their head to see what is happening from the side. Some people may periodically experiencenight blindness( nyctalopia ). The disease very rarely leads to complete blindness.

It is worth knowing that retinitis pigmentosa may be accompanied, among others, by myopia, cataracts, open-angle glaucoma, changes in the vitreous body.

Retinitis pigmentosa - diagnosis

In order to diagnose the disease, an examination of the fundus, visual field, and an electroretinogram are performed, during which the transmitted electrical impulses in the retina of the eye are measured. Fluorescein angiography can also be helpful - a test that shows the presence of diffuse defects in the retinal pigment epithelium and additionally differentiates this disease from choroidal dystrophies.

Retinitis pigmentosa - treatment

The changes in the eye's retina are irreversible, therefore the treatment focuses on visual rehabilitation (e.g. using optical aids). There are also trials of treatment with vasodilators, high doses of vitamin A and E.

Surgical methods are also used, such as transplantation of the retinal pigment epithelium or implantation of a retinal implant that converts images into nerve signals. However, these methods are currently under experimental research, as are gene therapy and stem cell transplantation.

According to an expertDr. Piotr Fryczkowski, MD, PhD, ophthalmologist, Retina Ophthalmology Hospital

My 46-year-old brother suffers from pigmentary degeneration of the retina which is rumored to be inherited. The doctor said that in 6-7 years he could lose his eyesight. In our family there were people who had ophthalmological problems, e.g. grandmother did not see. I do not have a visual impairment, but can my sons (17 and 21 years old) inherit this disease? What tests do you need to do toeliminate the threat?

Dr. Piotr Fryczkowski, MD, PhD, ophthalmologist: retinitis pigmentosa is a hereditary disease, although it can occur in families where no one has had the disease before. As for inheritance, it is varied and complicated. The disease can be passed down from generation to generation. If the mother passes it on to her children, then only her sons will get sick, and the daughters will be carriers of the damaged retinal pigment gene and pass it on to their sons. The consequence of this type of degeneration does not have to be blindness. Some people see well for the rest of their lives, while others lose their eyesight in their youth. Patients have poor vision in the dark, have a narrow field of vision and poor visual acuity. Children cling to their parents, cuddle in dark rooms, and may not even recognize their faces. For some, visual acuity is good, but the field of view becomes narrow; it is like looking at the world through a keyhole. These people must constantly turn their head to see what is happening from the side. They also cannot orientate themselves in the new surroundings, because the world seen by them resembles a lot of small puzzles that they have to arrange into one picture by twisting their head. The disease is diagnosed by examining the fundus, visual field and performing electrophysiology, that is, measuring the transmission of electrical impulses in the retina of the eye. Unfortunately, it is impossible to predict when or if the patient's final vision loss will occur.

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Eye diseases and vision disorders