What is it?
Retinitis pigmentosa
It is the most common hereditary disease of the retina. It consists of the progressive degeneration of light-sensitive cells (photoreceptors), which causes a gradual decline in vision. In advanced stages, it can lead to blindness.
There are two types of photoreceptor cells that can be affected in retinitis pigmentosa: peripheral vision cells (rods) and central vision cells (cones).
The rods, located in the peripheral area of the retina, are activated when light intensity is low and are therefore used for night vision. In contrast, the cones are concentrated in the central area of the retina or macula and are stimulated when light intensity is high. These cells provide greater visual acuity and enable color vision. Although retinitis pigmentosa has a genetic origin, in half of cases it can appear sporadically without the patient having any family history of the condition.
SYMPTOMS
Retinitis pigmentosa appears silently and causes a slow but progressive loss of visual acuity. The initial symptoms of the disease to watch out for are decreased night vision and progressive reduction of the visual field, which initially affects only peripheral vision.
On the one hand, loss of night vision manifests itself through poor vision in low-light environments and an inability to adapt to changes in the environment (light-dark).
On the other hand, the decrease in the visual field means that the patient begins to lose peripheral vision (side vision), although central vision is preserved.
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As the disease progresses over the years, the symptoms worsen and, at this point, color perception begins to be altered, glare (photopsia) and tunnel vision appear, due to the fact that central vision has also been affected. Once symptoms begin, retinitis pigmentosa will continue to progress at a more or less rapid rate, although the development of the disease does not affect everyone equally, even within the same family. Its prognosis can vary greatly from person to person, as it depends on the genes affected, mutations, the form of inheritance, and the age of onset. This is why it is difficult to predict the progression of this disease. It usually occurs between the ages of 25 and 40. However, in less frequent cases, it can occur in people under the age of 20 and over the age of 50.
Treatment
Retinitis pigmentosa cannot be prevented. Hence the importance of routine comprehensive eye examinations to enable early detection of this disease.
The diagnosis is established when the patient suffers from poor night vision, loss of peripheral vision affecting both eyes (bilateral involvement), improper functioning of the photoreceptors, or if there is a family history of retinitis pigmentosa. In the latter case, genetic diagnosis is key to identifying the pattern of inheritance, determining the probability of transmission, and alerting carrier family members that they may develop this disease in the future, even if they have not yet developed it.
Although significant progress is being made in understanding the disease, there is no effective cure.
Current research into retinitis pigmentosa is focusing on neuroprotective therapies, stem cell treatments, and gene therapy.
These therapeutic alternatives offer hope for the future treatment of this disease.
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