Retinitis Pigmentosa Treatment, Symptoms And Causes

Retinitis pigmentosa (RP), is a disease of genetic origin that causes a progressive degeneration of the light-sensitive eye cells (photoreceptors) that gradually lose vision.
It affects one person in 3,700, although this figure is variable depending on the country and region. It is the first cause of blindness of genetic origin in the adult population. It is more common in men, with 60% of patients sick and 40% women.

It was described for the first time by Donders in 1855 and since then it has not ceased in the effort of the knowledge of the diverse factors and genetic disorders that take part in its appearance and development, still being a long way to go.

The difficulty of understanding the Retinitis Pigmentosa treatment,  lies in the complexity of its pathophysiology and genetics, since to date the mutations found only explain less than half of the cases of retinitis pigmentosa.

The main problem that exists is the great variability of genetic mutations that can cause the same lesion in the retina, and also, on the contrary, how the same mutation found in a family is able to express different forms and degrees of disease. This suggests that there are not only genetic factors involved, but also environmental factors, and disease development can be modulated.

What is a Retinitis Pigmentosa Treatment?

Causes

Retinitis pigmentosa is a genetic disease of the retina.

Currently, more than 100 genes involved have been described and more than 2,000 mutations have been identified. However, these only explain a part of the cases of retinitis pigmentosa and, in about 25-30% of the affected families to which a genetic diagnosis is made, the molecular cause cannot be identified. This means that there are still new genes and mutations to be associated with the disease, a challenge to which research is oriented and for which the IMO Foundation currently has 2 projects underway in the laboratory.

Genetics is complex in this retinal dystrophy, since it can be transmitted through different inheritance patterns:

  • Dominant: affections in all generations of the family.
  • Recessive: jump generations. There are affections in one generation and, in the others, bearer members.
  • Linked to the X chromosome: affects only men and women carriers.

Symptoms of The Retinitis Pigmentosa

Tunnel vision: the reduction of the visual field causes patients to lose peripheral vision, so it is common for them to suffer frequent blows and falls or have problems locating and picking up objects around them. On the contrary, the central vision is maintained until late stages of the disease.

Night blindness: the difficulty of vision in poorly lit environments, as well as the poor adaptation of light to darkness, is one of the first manifestations of retinitis pigmentosa.

Decreased visual acuity: the ability to see clearly and distinguish details is reduced when the pathology is evolved.

Glare: the perception of flashes and “flashes”, especially in bright conditions, is very annoying and makes the use of sunglasses with special filters necessary.

Decreased visual acuity: the ability to see clearly and distinguish details is reduced when the pathology is evolved.

Altered color perception: also occurs in advanced cases of retinitis pigmentosa.

Living with Retinitis Pigmentosa

Retinitis Pigmentosa Diagnosis

Retinitis pigmentosa is usually diagnosed in young adults, although certain forms are already evident from early childhood, and others do not manifest until old age. The evolution of the disease is slow and progressive most of the time.
The diagnosis is based on a complete medical history, an examination of the eye (including study of the fundus, examination with the slit lamp and determination of intraocular pressure), and various complementary tests depending on each case (blood test, measures of the visual field, of the function of the photoreceptors, of the visual acuity, of the pupillary reflexes, vision of the colors, etc.). The most frequent is to find that the patient has involvement of both eyes, observing night blindness, reduction of the visual field and accumulation of pigments in the fundus (located mostly in the periphery). The diagnosis of retinitis pigmentosa is established when bilateral involvement is found (both eyes), loss of peripheral vision and an incorrect functioning of the photoreceptors (observed by alterations in the electroretinogram).
The diagnostic tests that are usually performed in patients in whom pigmentary retinosis is suspected are:
Study of the fundus by ophthalmoscopy and angiofluoresceinography.
Study of the visual field (campimetry): it allows to elaborate a map of the visual field (the area that can be seen), thus providing detailed information on the loss of peripheral vision.
Study of visual acuity.
Tests of adaptation to darkness.
Contrast sensitivity and color recognition.
Electroretinogram: it is a key test to diagnose pigmentary retinosis, since it allows quantifying the response of photoreceptors (rods and cones) to light. To perform an electroretinogram, the patient sits in a dark room so that his eyes adapt to the darkness. Then, one eye is covered and the other eye drops and a contact lens. Then, the electroretinogram machine produces flashes and records how the photoreceptors respond to these stimuli. Subsequently, the same process is performed with the other eye.
Genetic studies of the affected person and their relatives to try to identify the type of transmission and the altered gene or genes.

Retinitis Pigmentosa Treatment Recap

Retinitis pigmentosa is not a single disease, but a group of degenerative diseases that affect the eye and are characterized by producing a slow and progressive loss of vision. The most affected part of the eyeball is the retina, which is the layer that covers the inner part of the eye and is responsible for acquiring and processing the images from the outside, converting them into nerve impulses, and sending them to the brain through the optic nerve.

Generally the affectation is bilateral, reason why both eyes are affected. The most frequent symptoms are night blindness, limited field of vision with loss of peripheral (lateral) vision and glare. Over time, blindness can occur.

Retinitis pigmentosa may appear as an isolated disease (non-syndromic pigmentary retinosis), or be associated with other ocular or systemic pathologies (syndromic pigmentary retinosis). In this way, people with retinitis pigmentosa can have other vision disorders such as myopia, astigmatism, cataracts, glaucoma or corneal abnormalities.

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