RETINITIS PIGMENTOSA
Retinitis pigmentosa (RP) is a genetic degenerative eye disease that affect the retina and make cells break down slowly over time, causing progressive and gradual loss of vision usually progressing to blindness.
The prevalence is 1/4.000 people affecting both sexes and appearing most of the time between the ages of 10 and 30.
CAUSE
RP is a genetic disease caused by the mutation (alteration) of genes involved in the functioning and regulation of retina cells, the photoreceptors, essential for vision.
The responsible genes can be very numerous. There are currently around a hundred of them.
SYMPTOMS
Loss of night vision
Loss of side vision
Extrem photosensibility
RP usually begins in childhood with vision problems when the intensity of the light decrease.
Parents may notice that children with RP have trouble moving around in the dark or present difficulties to pass from a brightly room to a dark one.
Then, RP also causes loss of side (peripheral) vision causing trouble seeing things out of the corners of your eyes. Over time, your field of vision narrows until you only have some central vision giving an impression of "tunnel vision".
This attack is bilateral, both eyes are affected.
Daily life is gradually affected : presence of a certain clumsiness, impossibility driving first at night and then also during the day, frequent percussion of objects while walking...
Some people with RP lose their vision more quickly than others. Eventually, most people with RP lose their side vision and their central vision.
Due to the deterioration of the retinal pigment epithelium (pigmented cell layer on the outer surface of the retina), RP also gives rise to hypersensitivity to light called photophobia.
DIAGNOSTIC
To diagnose this pathology, tests are performed to assess the retina, such as:
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Fundus study
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Study of the visual field
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Visual acuity
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Electroretinography
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Measurement of intraocular pressure
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Dark adaptation and color perception test
TREATMENT
There is currently no cure for RP...
A few precautions can slow the progression of the disease.
Wearing suitable protective and filtering glasses, protecting against light and ultraviolet rays is recommended. Their purpose is above all to reduce the feeling of glare, just like wearing a peaked hat.
It is also advisable to avoid exposure to the sun without this protection (sea, mountain).
RESEARCH
At this stage, despite all the efforts of doctors and researchers, they are not yet able to treat it comprehensively.
However, a gene therapy treatment is currently available on the market, but only for one of the very specific forms of the disease, that induced by the gene RPE 65.
Recently, at the Institut de la Vision, they have developed different restoration strategies vision, including optogenetic therapy, to restore some vision to blind patients with retinitis pigmentosa (RP) or age-related macular degeneration (AMD). The optogenetic therapy treatment is a world first that allows blind people to partially recover their sight!
This innovation raises many hopes to compensate for loss of sight, but the main objective is to preserve the sight of patients.
The Institut de la Vision is also developing different therapy approaches independent of the causal gene in order to target the greatest number of patients. One of these strategies is soon to enter a clinical trial.
However, this research, which makes it possible to strengthen the hopes that are currently emerging, requires obtaining significant funding to carry out these innovative therapeutic projects.
This is why we have decided to create this foundation. We help different reserch institutes in order to raise funds by developping projects with our team.
This is why also we need you and your generosity to help the research. Lately, we had so many hopes with all these recents advances and we are convinced that we are almost there !!
YOUR HELP IS UNVALUABLE, HELP US ACHIEVE THIS !
" El futuro no es lo que va a pasar,
sino lo que vamos a hacer "
J.L. Borges