Retinitis pigmentosa or retinitis pigmentosa (RP) comprises a group of eye diseases that involve damage to the retina. The retina is a specialised tissue on the inner surface of the eye, where images are projected, and has the ability to convert light signals into nerve signals, its fundamental function being the sense of vision.
In retinitis pigmentosa patients, this tissue degrades and even disappears in many patients. Some forms of retinitis pigmentosa may be associated with deafness, obesity, kidney disease and other general health problems, including metabolic and central nervous system disorders. It is sometimes also associated with chromosomal abnormalities.
Retinitis pigmentosa manifests itself in different ways causing progressive vision loss. Among the various symptoms described, some of the most relevant are night vision problems or reduced peripheral vision (lateral, upper or lower).
As the patient’s vision worsens they may experience ‘tunnel vision’. In some people, retinitis pigmentosa can also lead to disturbances in colour perception. There is currently no cure for retinitis pigmentosa.
It is a disease that is usually inherited and is passed down through one or both parents, although, on rare occasions, it can develop spontaneously from DNA miscoding during cell division.
50% of cases have a family history. However, severe visual impairment does not affect everyone equally, even within the same family. Several specific genes involved in this disease have been identified, but it is not clear why mutations in one gene alter photoreceptors and other retinal layers.
It is estimated that 1 in 3,000 – 4,000 of the world’s population suffers from retinitis pigmentosa, and it is the leading cause of total blindness. With a world population currently estimated at over 7.74 billion people, it can be estimated that approximately 1.94 to 2.58 million people worldwide suffer from one of these disorders. In Spain alone, there are an estimated 15,000 cases.
It is therefore a rare disease, but affects a significant number of people in the population.
The company doing research in the field of this disease is Sylentis.
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