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 Voices of Usher

Everyone has a unique story to tell.
In these accounts Associates share experiences, emotions, daily challenges, and moments of growth – reflecting the generosity of those who open themselves up to the world.

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!

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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

18 September

International Conference on Usher Syndrome