Retinitis Pigmentosa

Retinitis pigmentosa is a rare disease belonging to a group of inherited disorders leading to progressive degeneration of the retina.

It is characterized by a progressive loss of the peripheral field of view, with involvement of central vision in the later stages and night and twilight blindness.

What is retinitis pigmentosa?

Retinitis pigmentosa, also known as retinosis pigmentaria, retinopathy pigmentosa or tapetoretinal degeneration, is an inherited disorder characterized by progressive degeneration of the retina in both eyes.

Retinitis pigmentosa: symptoms

The first symptoms of the onset of retinitis pigmentosa include night and twilight blindness and the progressive narrowing of the field of view, particularly in the following everyday situations:

  • you may experience a few minutes of blindness before adjusting to semi-darkness in dimly lit rooms and environments;
  • when looking for an object on a table, you may need to analyze the entire surface to find or determine the position of an object (fork, pen, napkin, etc.);
  • when outside, you may feel the need to pay close attention to the road, constantly moving your head to identify the position of other people and the presence of obstacles.

Retinitis pigmentosa: what do people see?

In the early stages, the symptoms of retinitis pigmentosa occur mainly in the twilight hours. As the disease progresses, only a small area of central vision remains, while peripheral vision is greatly reduced. At the same time, affected people notice that glare is accentuated and contrast and visual acuity are reduced.

The field of view may be reduced to the tubular vision typical of glaucoma, complicating movement in space.

Retinitis pigmentosa: genetic forms

Retinitis pigmentosa is categorized into four different forms based on the type of genetic transmission:

Autosomal dominant retinitis pigmentosa

affects males and females with equal frequency and does not skip generations;

Autosomal recessive retinitis pigmentosa

affects males and females with equal frequency, but skips generations and occurs sporadically, with an incidence of only one case every 2–3 generations;

X-linked retinitis pigmentosa

affects only males who have inherited the gene from their mothers, who are considered healthy carriers and have a 50% probability of transmitting the disease to a male child.

Retinitis pigmentosa with sporadic transmission

constitutes about 30% of all types and involves only one family case in living memory. If the affected person is male, X-linked transmission cannot be excluded.

Retinitis pigmentosa: the causes

The genetic origins of the disease are now certain: it is hereditary and transmitted in the forms indicated above.

The first symptoms of the disease occur between puberty and adulthood, with rare cases of children affected by the disease early in life.

The incidence of retinitis pigmentosa in Italy is about one person per 3000–5000.

Retinitis pigmentosa: therapeutic outlook

There is currently no cure for retinitis pigmentosa. However, there are therapies that slow down its course, as well as the possibility of implanting artificial retinas that decode light stimuli, transforming them into visual stimuli. The adoption of lenses and filters with high retinal protection is essential, both as prevention and to improve visual performance in people suffering from this pathology.

To preserve the retinal cells, it is also recommended to adopt a healthy lifestyle, favoring a diet rich in fruit and vegetables and avoiding smoking.

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