Retinitis pigmentosa is a rare disease. The progression of the disease causes damage to the retina, and is the cause of progressive blindness of the patient. But COP9 wishes to raise your awareness and inform you about this rare disease! Learn how to recognize the symptoms, and discover a great scientific advancement in the treatment of retinitis pigmentosa!
Retinitis pigmentosa: explanations!
You might be asking yourself ” But what is retinitis pigmentosa”? Behind this name, you probably recognize the words “retina” and “pigment”. Indeed, it is a pathology that affects the cells of the retina, and can cause a progressive loss of vision, up to complete blindness.
A rare genetic disease, it causes a degeneration of the membrane that covers the inner surface of the eyeball, related to the eye’s sensitivity to light. It is a progressive alteration of the photoreceptors as well as the dysfunction of the pigmentary epithelium. The origin can be hereditary, and affect diabetics as well as people with no medical history.
Retinitis pigmentosa affects both women and men, between the ages of 10 and 30 on average. A very rare disease, its incidence rate is 1 in 4000 births, for about 30 000 patients affected in France according to the SNOF. (Syndicat National des Ophtalmologistes de France)
The COP9 multidisciplinary team wishes to draw your attention to the fact that these ages are given as an indication: the pathology is not linked to age. It is therefore necessary to raise awareness, to share information about this rare disease with others by passing on this article, and to know how to recognize the symptoms!
How to recognize the symptoms of retinitis pigmentosa?
This rare disease evolves differently from one person to another: its speed of evolution and severity is unique for each person. To detect retinitis pigmentosa, being attentive to the first signs allows for a better medical treatment.
The following symptoms can be observed:
- A weakened vision at night or in a dimly lit environment
- Loss of peripheral vision
- Loss of central vision
- Diminished central vision
- Difficulty with fine motor skills
- Reduction in daily independence
Retinitis pigmentosa progresses gradually, over several years, leading to visual impairment. In some cases, loss of vision is seen in certain people affected by retinitis pigmentosa, but the majority of them become visually impaired, maintaining a more or less large field of vision.
How is retinitis pigmentosa treated?
Being a rare disease, its study is complex. Many different factors can be linked to its appearance.
There is currently no surgical procedure or treatment to cure retinitis pigmentosa and restore eyesight. However, the use of tinted glasses to protect against the sun is recommended, as the condition can be worsened by sunlight.
It is also important to pay special attention to associated pathologies such as cataracts and macular edema. Think about making an appointment with our ophthalmologist, Dr. Stéphanie Zwillinger, to ensure your eye health if you are affected by one of these diseases in order to perform a screening.
Various training programs are set up for children and adults affected by this pathology: guide dogs, the use of a white cane, Braille, medical devices and appliances, are all possible means of enabling patients to maintain their independence.
Des rendez-vous de rééducation auprès d’ergothérapeutes ou des psychomotriciennes sont aussi des moyens mis en place afin d’accompagner la personne en situation de handicap visuel.
Re-education appointments with occupational therapists or psychomotor therapists are also available to support the visually impaired person.
Is there a treatment for retinitis pigmentosa? The gene therapy technique has been successful in a single test patient. Read on to find out more!
Hope against retinitis pigmentosa!
Another incredible advance in the world of ophthalmology! On the occasion of the 35th Telethon in 2021, a cellular treatment from a patch that can slow down the degradation of cones and rods has been unveiled.
A step forward in the fight against progressive visual field degeneration has been made by many professionals in the field, including the Quinze-Vingts Hospital. Therapeutic possibilities are envisaged in the future!
However, this technique is still in the trial phase. It allows to slow down the degeneration of the cells, and thus the loss of vision, thanks to the retinal patch of stem cells. These cells are able to replace the affected photoreceptors with photoreceptors derived from embryonic stem cells.
Thanks to this cell therapy, this study has made it possible to partially restore the sight of a patient suffering from visual impairment caused by this very rare disease. There is no question yet of a total cure, but of slowing down the evolution of the disease.
To conclude, this newly developed therapy is still in the study phase, which is why it will take some time before this therapy can be offered to patients suffering from blindness or vision loss. But not only will this advance be addressed to people suffering from rare and genetic diseases, but also to eye pathologies like AMD!