Book an appointmentWhat is retinitis pigmentosa?
Retinitis pigmentosa (rp) encompasses a heterogeneous group of genetic diseases caused by mutations in various genes of the Retinal cells, making them few and dysfunctional.
These genetic alterations are usually transmitted to offspring, with retinitis pigmentosa being the most common hereditary disease of the retina.
RP affects approximately 1 in 5,000 people.
Why does retinitis pigmentosa occur?
Lacking the necessary genetic information to develop properly, the retinal photoreceptor cells (the rods and cones) cannot divide sufficiently, and they do not function properly, resulting in a gradual decrease in vision.
This is retinitis pigmentosa
How does retinosis pigmentaria (RP) manifest?
Night blindness is the main symptom in patients affected by rp, which is usually accompanied by difficulties in seeing when moving from a bright environment to a less bright environment.
It is common for RP to affect the rods first, so central vision is usually preserved until very advanced stages. The same happens with the visual field, which is progressively lost from periphery to central, ending with a tunnel vision.
Altered colour perception, glare or cataracts usually appear in more advanced stages of the disease.
Visual acuity may decrease because of cataracts in both early and late stages.
Retinitis pigmentosa treatment
Retinitis pigmentosa is an incurable pathology. The disease is characterized by its slow and continuous progression, but total blindness is rare.
Since many patients present with cataracts, cataract surgery should be considered and recommended in many cases. There are different options to treat the macular edema that these patients frequently present.
There is one approved genetic treatment to treat this disease (luxturna) and other investigational therapies based on replacing the defective gene with a functional one, also cell therapies that consist of replacing damaged retinal cells with stem or embryonic cells.
Prevention of retinitis pigmentosa
It has no definitive prevention.
Summary
Debut
It does not have a specific presentation age, but it is frequently diagnosed in young age.
Symptoms
Night blindness, loss of peripheral vision, and in advanced stages altered colour perception, glare and cataracts. It has no definitive prevention.
Revision
Possibility of treatment is difficult and rare. There are therapies in the experimental phase that are having good results.
Prevention
It has no definitive prevention.
