WHO WE ARE
We are people with Usher Syndrome, we are relatives, we are close ones, we are friends of people with Usher Syndrome, we are people in solidarity with those who have Usher Syndrome.
The Association
We have come together in an association to promote awareness of Usher Syndrome, which is a rare genetic disease, to act so that the specific needs of people with Usher Syndrome are concretely met through the necessary legal regulations and social relationships (school, work, recreational, sports, etc.), to support and fund medical and scientific research in the treatment of Usher Syndrome, hearing loss, and retinitis pigmentosa.
What is Usher Syndrome?
Usher Syndrome (USH) is a genetic disorder characterized by congenital or early-onset bilateral deafness followed by a later decline in visual acuity, impaired night vision, and a constricted visual field due to retinitis pigmentosa (RP). USH represents the most common cause of combined deaf-blindness and accounts for the largest fraction of recessive RP cases, comprising approximately 18% of all RP cases. Clinically, USH is divided into three subtypes based on the age of onset and severity of hearing loss and RP symptoms.
Subtypes
In USH type 1, people experience profound congenital deafness, pre-pubertal onset of RP, and, in most cases, severe vestibular dysfunction. USH type 2 is characterized by moderate hearing impairment with RP typically diagnosed during puberty, while USH type 3 is marked by a later onset of progressive hearing loss and a variable onset of RP in the second to fourth decades of life, accompanied by minimal vestibular dysfunction. Genetically, USH is heterogeneous, with ten causative genes identified to date.
GOALS
HELP US PUT THESE X AND REACH OUR GOALS
- Usher Syndrome is NOT included in the National Register of Rare Diseases established by the National Health Service (SSN), and therefore it is NOT identified with its own specific exemption code.
- Usher Syndrome is NOT diagnosed in most people who have this condition.
- If you do NOT know you have Usher Syndrome, you do NOT know who to turn to in order to learn about this disease and fight it, because you do NOT know what will happen to your sight or how to take care of it to preserve it!
- Usher Syndrome is NOT known by many pediatricians and by specialists in hearing and vision disorders, and so it is NOT diagnosed in time to prevent or slow down vision loss.
- The families of those affected by congenital or early-onset bilateral deafness do NOT know that Usher Syndrome exists and that reliable screening can be done through genetic testing, even long before symptoms of retinitis pigmentosa appear.
- There are very promising preclinical and clinical trials that are NOT carried out because we do NOT have enough funds to support them!
DON’T HAVE TIME TO VOLUNTEER?
Make a donation via bank transfer
Usher Italia A.P.S.
Iban: IT 51 W 07092 38991 00000 1013505
Reason: Voluntary donation, first name + last name + tax code of the donor
We are a private non-profit organization registered with RUNTS. All of us Members carry out our activities on a voluntary basis. We exist and operate solely thanks to private donations. Take advantage of tax benefits! You can contact us or visit the website of the Italian Revenue Agency to find out the tax deduction advantages.
DO YOU WANT TO HELP US REMOVE THESE Xs?
BECOME A MEMBER!
Send us an email at info@usheritalia.org or a WhatsApp SMS to +39 3927438148
THE LONG-AWAITED EVENT:
THE STICHTING USHER SYNDROOM INTERNATIONAL SYMPOSIUM!
Our association will participated in person, for the entire duration of the event, at the International Symposium and “Congrestival” USH2025, organized by the Dutch Stichting Usher Syndroom, which was held from June 19 to 21, 2025, in Nijmegen, the Netherlands.
The last international symposium had been held 7 years ago ago, therefore the event was of primary importance and awaited for years. It was a key opportunity not only to get up to date with international scientists but also to meet and exchange ideas with Usher individuals and families from different parts of the world.
It focused on
A. Genetics and diagnosis of Usher Syndrome;
B. Modeling Usher Syndrome in vitro and in vivo;
C. Molecular mechanisms of Usher Syndrome pathogenesis;
D. Therapeutic strategies for Usher Syndrome;
E. Clinical developments: beyond the state of the art in phenotyping, biomarkers, and clinical endpoints.
To whom it was dedicated
The “Congrestival,” called the Festival of the Senses, was held on June 21, 2025, and was dedicated to bringing together the international Usher community. It was a key moment to build an international network that allows us to share ideas, experiences, and projects.
We listened to everyone and shared our initiatives to strengthen our community!
