“We have mourning to do all the time”: in Montpellier, the sacred union against choroideremia, the disease that causes blindness

In France, barely 800 people are diagnosed. Midi Libre – SYLVIE CAMBON

Last weekend, patients, doctors and researchers exchanged the latest information on the disease during the national congress of the France choroideremia association organized in Montpellier, one of the reference centers for this genetic pathology. rare which affects the X chromosome and affects men: initially embarrassed to see at night, they gradually lose their sight.

Will we one day cure choroideremia, a rare genetic disease which affects the rsquo;Ascension, researchers, doctors and patients came from all over the world, United States, England, Canada, Germany, Belgium, to advance knowledge, at the invitation of the France Choroidérémie association, born in Montpellier, which is celebrating its twentieth anniversary this year.

Researchers and doctors have also made the city one of the rare French reference centers, with Strasbourg and Paris (two centers).

Choroideremia in brief

Choroedemia is a rare disease detected in some 800 patients in France linked to cancer. a genetic mutation present on the X chromosome, it mainly affects men, with an XY genetic profile, the difference in women, XX who can transmit the defective gene to others. their descendants without being sick themselves.

This mutation prevents "good health" vessels of the cell tissue located under the retina, this tissue itself ensuring the proper functioning of the retina and photoreceptors.< /p>

The disease often begins in childhood, with poor vision at night. Then, gradually à As we age, the daytime field of vision also becomes narrower, until the age increases. blindness. À Currently, there is no treatment available.

Dr Vasiliki Kalatzis heads the Inserm "vision" of the Institute of Neurosciences and Pr Isabelle Meunier, ophthalmologist at Montpellier University Hospital, coordinates the reference center dedicated to genetic eye diseases.

Professor Isabelle Meunier, ophthalmologist, and researcher Vasiliki Kalatzis. SYLVIE CAMBON

With a brother and a son affected by the disease, the first, 50 years old, "walks with a cane", the second, 20 years old, "has no visible signs", Marie-Catherine Grès-Faure, < em>"healthy carrier" of the gene responsible and national president of France Choroideremia, represents these families of patients who, for a long time, do not & quot;don't know" : "We were detected in 1988-1989. In the family, we have to go back to my grandmother's brother who was blind", explains the president.

If 800 patients are diagnosed today, many of them ignore it: "We often confuse choroideremia with retinitis pigmentosa. But as long as we do not understand exactly what is happening, we will not be able to heal", insists the Hérault resident who is working hard to bring together the skills to advancing science: "To be tested is to be in a data bank, and it’to be in the starting blocks for the day where there will be treatment".

In the meantime, this weekend she brought Rémi du Chalard to Montpellier, winner of the Lépine 2024 competition with the Artha device, an invention intended to restore autonomy to the visually impaired .

The walking assistance device was tested in Montpellier.

The Artha system has just been dedicated to the Lépine competition.

"We have no right to make mistakes"

"There was gene therapy offered to patients, it was stopped. With a disease that progresses very slowly, it’s very difficult to show that a treatment is effective on 300 patients, when you have answers in less than two years when you test a new protocol on diabetes or cancer", regrets Isabelle Meunier, who does not lose hope.

What is the point of screening if nothing is possible ? "I can't let you say that. In all these patients, an impeccable lifestyle, which ranges from diet to sporting activity, makes it possible to delay the appearance of the most disabling symptoms by around ten years. years",affirms the doctor, attached, for each of her patients – it follows 6000 families, half for retinitis pigmentosa, 2% for choroideremia – at "take the family history", and "identify the clinical signs" .

"We have no room for error. It’s important to put an end to the current wandering of diagnosis". For her, the congress organized in Montpellier is also an opportunity to "remobilize the teams".

At Inserm, Vasiliki Kalatzis works directly on "patient cells", "it’is already a large not to not use animal cells". Several avenues are now being followed to restore failing functions in patients."Putting reconditioned cells in contact with the retina, we know how to do it, but we haven't found how to create a favorable environment that would allow the neurons to reconnect" , deplores Isabelle Meunier.

For the American Eric Hartman, whose foundation finances the Montpellier team, the solution is "probable".

The American Eric Hartman and the Frenchman Benoît Grèze, two experiences of the disease. SYLVIE CAMBON

For Benoît, the Frenchman, and Eric, the American, “the hope of living better”

"The loss of autonomy, I had anticipated, the loss of social relationships, a little less…& quot; Benoît Grèze, 51 years old, describes without taboo the effects of the disease, diagnosed in Montpellier, when he was twenty years old. Face to face, he manages to fixate on "one eye" of his interlocutor.

Eric Hartman, from New Orleans, Louisiana, says he can see "a silhouette". "I am old, but I believe that I will see solutions for the different stages of the disease, whether cell transplantation or optogenetics, stimulation of the optic nerves. I have the hope of living better", slips the American, who dedicates his life, in addition to painting, to raising funds to finance research on choroideremia.

"There were 14 of us when we started, we each gave 1000 dollars. Today, we distributed $5.5 million for research in 19 countries, he announced.

For Benoît Grèze, life is a succession of renunciations: "We have mourning to do all the time, driving, skiing, doing a jog, cycling alone…" This Héraultais who lives in Paris "because it’ easier with a disability", one of ten French patients to have benefited from gene therapy in 2018, “in the left eye, the most affected", without obvious results to date, has eyesight which has continued to deteriorate.

"I was a radio physicist, I could have had another career… I returned to EDF, where I can work, I manage contracts, thanks to adapted software. I'm not considering early retirement, it's already so difficult. For the past year, I have no longer been able to read without assistance.

Sometimes audio books, like "The Eyes of Mona", the event novel from early 2024, where the author, Thomas Schlesser, tells how a little girl threatened with losing her vue discovers the paintings of the greatest artists with the complicity of his grandfather. "I’loved traveling, going to museum… the works, I don't see them anymore, I didn't hang on to them", smiles fatalistically, Benoît Grèze.

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