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.
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 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.
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.
Al momento non esistono cure per la retinite pigmentosa. Vi sono però terapie che ne rallentano il decorso, oltre che la possibilità di impiantare retine artificiali che decodificano gli stimoli luminosi trasformandoli in stimoli visivi. Fondamentale, sia come prevenzione che per migliorare la performance visiva in persone affette da questa patologia, l’adozione di lenti e filtri ad alta protezione retinica.
Per preservare le cellule retiniche è inoltre consigliato adottare uno stile di vita sano, favorendo una dieta ricca di frutta e verdura ed evitando il fumo.