What is Usher Syndrome?
- Usher Syndrome
- Hallgren syndrome
- Usher-Hallgren syndrome
- Retinitis pigmentosa-deafness syndrome
- Retinitis pigmentosa-dysacusis syndrome
- Dystrophia retinae dysacusis syndrome
- Deafness-retinitis pigmentosa syndrome
- Dystrophia retinae pigmentosa-dysostosis syndrome
- Graefe-Usher syndrome
Usher syndrome (sometimes referred to as “Usher’s syndrome“) is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis syndrome. Usher syndrome is incurable at present; however, using gene therapy to replace the missing gene, researchers have succeeded in reversing one form of the disease in knockout mice.
This syndrome is characterized by deafness and a gradual vision loss. The hearing loss is associated with a defectiveinner ear, whereas the vision loss is associated with retinitis pigmentosa (RP), a degeneration of the retinal cells. Usually, the rod cells of the retina are affected first, leading to early night blindness and the gradual loss of peripheral vision. In other cases, there is early degeneration of the cone cells in the macula, leading to a loss of central acuity. In some cases, the foveal vision is spared, leading to “doughnut vision”; central and peripheral vision are intact, but there is an annulus around the central region in which vision is impaired.
Usher syndrome has three clinical subtypes, denoted as I, II and III. People with Usher I are born profoundly deaf, and begin to lose their vision in the first decade of life. They also exhibit balance difficulties and learn to walk slowly as children, due to problems in their vestibular system. People with Usher II are not born deaf, but do have hearing loss. They do not seem to have noticeable problems with balance; they also begin to lose their vision later (in the second decade of life) and may preserve some vision even into middle age. People with Usher syndrome III are not born deaf, but experience a gradual loss of their hearing and vision; they may or may not have balance difficulties.
Usher syndrome is a variable condition; the degree of severity is not tightly linked to whether it is Usher 1, 2 or 3. For example, someone with Type 3 may be unaffected in childhood but go on to develop a profound hearing loss and a very significant loss of sight by early to mid-adulthood. Similarly, someone with Type 1, who is therefore profoundly deaf from birth, may keep good central vision until the sixth decade of life, or even beyond. People with Type 3, who have useful hearing with a hearing aid, can experience a wide range of severity of the RP. Some may maintain good reading vision into their sixties, while others cannot see to read while still in their forties.
Usher syndrome I and II are associated with a mutation in any one of six or three different genes, respectively, whereas only one mutation has been linked with Usher III. Since Usher syndrome is inherited in an autosomal recessive pattern, both males and females are equally likely to inherit Usher syndrome.Consanguinity of the parents is a risk factor. Children of parents who both are carriers of the same mutation have a one fourth chance of inheriting the condition and children of such parents who are unaffected have a two thirds chance of being carriers. Children of parents where only one parent is a carrier have a no chance of having the disease but have a one half chance of being a carrier. First recognized in the 19th century, Usher syndrome was the first condition to demonstrate thatphenotypes could be inherited in tandem; deafness and blindness are inherited together, but not separately. Animal models of this human disease (such asknockout mice and zebrafish) have been developed recently to study the effects of these gene mutations and to test potential cures for Usher syndrome.
Other interesting articles and links
• Usher Syndrome – Symptoms and Causes of Usher Syndrome
• Usher Syndrome . Psychology Wiki
• Usher Syndrome Type II – U.S. National Library of Medicine – National Institutes of Health
• Usher Syndrome Type I – U.S. National Library of Medicine – National Institutes of Health
• What is Usher syndrome?
How common is Usher syndrome?
Where can I find additional information about Usher syndrome?
Inheritance of Usher Syndrome
Mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes cause Usher syndrome.
The genes related to Usher syndrome provide instructions for making proteins that play important roles in normal hearing, balance, and vision. They function in the development and maintenance of hair cells, which are sensory cells in the inner ear that help transmit sound and motion signals to the brain. In the retina, these genes are also involved in determining the structure and function of light-sensing cells called rods and cones. In some cases, the exact role of these genes in hearing and vision is unknown. Most of the mutations responsible for Usher syndrome lead to a loss of hair cells in the inner ear and a gradual loss of rods and cones in the retina. Degeneration of these sensory cells causes hearing loss, balance problems, and vision loss characteristic of this condition.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Usually the disease is inherited from both parents who are symptom-free genetic carriers of Usher Syndrome.
Inheritance from one diseased parent odds: Usually 0% chance of disease, 100% chance of being a genetic carrier if one parent has an autosomal recessive disease (not just carrier).
Inheritance from two carrier parents odds: 25% disease, 50% chance carrier, 25% neither for autosomal recessive diseases.
Gender bias in inheritance: Male or females get the disease equally.
Other interesting articles
• Safety Study in Retinal Transplantation for Retinitis Pigmentosa.
The long-term goal is to show that retinal transplantation can help to prevent blindness and to restore eyesight in patients with the inherited disease retinitis pigmentosa.
• Trials for ‘bionic’ eye implants
bionic eye implant that could help restore the sight of millions of blind people could be available to patients within two years.
• The IOL-Vip System: a double intraocular lens implant for visual rehabilitation of patients with macular disease.
Orzalesi N, Pierrottet CO, Zenoni S, Savaresi C.
University Eye Clinic, San Paolo Hospital, Milan, Italy
• IOL-VIP system: new hope for low vision patients
By: Professor Giuseppe Ravalico
Ophthalmology Times Europe
• Optobionics’ Artificial Silicon Retina™ microchip (ASR™)
invented by Dr. Alan Chow and his brother Vincent Chow. Dr. Chow is an ophthalmic surgeon and assistant professor and his brother Vincent is an electrical engineer. The ASR was designed to stimulate damaged retinal cells from within the retina to allow the cells to recreate visual signals that are processed and sent to the brain.
Therapies and Cures
Currently there is no cure for Usher Syndrome.
However, there are some studies and methods that seek to slow down / halt the deterioration, especially as regards retinitis pigmentosa.
As there are not certain and absolute solutions, all methods are considered stages of development and / or attempts, be it of scientific medicine in the western sense words whether alternative methods, not only by influences of oriental origin.
The informations on this website are in no way intended to be exhaustive and in any case we believe that the cure of Usher syndrome may rank among the personal paths involving the participation of the individual and thus its inclination towards a specific method rather another.
It is widespread practice in Western countries to trust only the results of scientific medicine, but in the case of the Usher syndromes, despite some promising discoveries, there are not the numbers to consider a way better than another in an unequivocal manner.
In over 20 years of living with the disease and its stages of progress, I have got to deal with different point of views and take part in some research. We believe that the opinions and choices are personal, but we try to provide as much clear information as possible for everyone to find their own guidance in choosing a therapy or another or none.
• CUBAN THERAPY FOR RETINITIS PIGMENTOSA
The International Center of Retinitis Pigmentosa, founded in 1992, provides specialized eye care for the diagnosis of eye diseases, especially treatment of Retinitis Pigmentosa
For the severe limitations posed to those who suffer, mostly young people, a team of Cuban scientists, led by Prof. Dr. Pelaez Molina, has been working for over forty years studying the therapeutic possibilities to stop progression of Retinitis Pigmentosa.
The treatment applied to the Retinitis Pigmentosa is performing a surgical technique associated with the application of ozone therapy, electrostimulation therapy, vitamin therapy. This surgery implants fatvascular orbital tissue in the suprachoroidal space, structure rich in blood vessels.
Cuba has a National focus on Retinitis Pigmentosa, led by Professor Peláez covering all provinces, which have been treated more than 6 000 patients and has allowed to know that 3.5 every 10 000 people with the disease.
All these years of experience and education are available at the International Center of Retinitis Pigmentosa “Camilo Cienfuegos”, where they have been treated approximately 4 365 patients from 78 countries. It also attend other ocular diseases such as: retinal dystrophy, diseases of the macula, eye diseases associated with retinitis pigmentosa, cataracts, glaucoma, myopia, other ametropia.
“Careful checks by non-Cuban specialists on many patients who have had these treatments have unfortunately found the complete ineffectiveness of this therapy. No improvement in functional parameters (visual field, visual acuity) was found. The same specialists do not exclude that these treatments may even be harmful. “ Abbattista Irene Gentile, Mauro Adenzato
• GENE THERAPY by Bennett J.
FM Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, PA 19104-6069, USA
The following informations are carefully selected, but the proof of thier truth is based on differend assumpions of the scientific methos, so it is hard to compare the results and the reliabilityof sources.
Some definitions are taken from DEAFBLINFINFO.ORG
USHER SYNDROME IS ONE OF THE CAUSES OF DEAFBLINDNESS
Deafblindness is a combination of vision loss and hearing loss that prevents access to communication, the environment, and people. A person who is DeafBlind may or may not have other physical or cognitive disabilities; each individual is different.
Deafblindness is a disability of access to sights, sounds, and information. All people with dual sensory loss face similar challenges, including:
• depending on others, to a certain extent, in order to feel safe and informed,
• learning and using communication strategies,
• becoming aware of and navigating their surroundings,
• finding social, living, and employment situations that fit their individual • talents, needs, and aspirations.
• Attitudinal Barriers that complicate their interactions with non-deafblind people.
Hearing loss causes difficulties communicating with people using spoken language, and vision loss causes problems using visual languages, such as sign language. With limited or no access to the sights, sounds, conversations, and interactions of the environment, you can imagine the difficulty DeafBlind people have in traveling around town, going shopping, and visiting the doctor.
However, when their needs are accommodated, people with dual sensory loss can live full, satisfying lives.
These are general issues related to the disability, especially in severe cases, but because it’s common for people who are deafblind to have some residual hearing and / or visual, there are psychological implications associated with
• acceptance of disability, especially in cases where the sensory difficulties appear at a young age
• awareness of the inevitable deterioration
• acceptance of aids. Hearing aids, white stick are symbols that reveal to everyone being different, although not visible to others.
• acceptance of one’s limits and non-self-sufficiency
• the disable affected by incurable retinitis pigmentosa is always wondering : Will I become blind? For how long will I still see? Will they find the cure before I completely lose sight?
IT IS IMPORTANT THAT DOCTORS ARE AS ACCURATE AS POSSIBLE IN THE DIAGNOSIS AND THEY PROVIDE ADEQUATE SUPPORT FOR PATIENTS AND THEIR FAMILIES.
Retinitis Pigmentosa is a highly disabling degenerative genetic disease that has major social consequences and relationship to the person concerned and / or whoever is next, whether relative, or friend.
When the disease emerges in childhood, becomes the fundamental role of parents, who themselves must be able to accept the disease and then to lead a “normal” life to their child without making him feel different from others. This is not a simple thing to implement, in fact often the normal attention of parents towards their children, even more if suffering from RP, it becomes overprotective putting them in a “gilded cage” and not promoting the socialization of these with their peers; all this has a negative impact at the time when they must face alone the challenges of life suddenly feeling “different” from others, often falling into depression. Attitude of other parents, it can be to hide the disease until the child grows and sometimes he finds out by himself and it is almost always when he is in the adolescent phase, already difficult in itself, where the young loses confidence in parents as a result of the fact that they hid the disease.
Another situation is when RP is diagnosed in older age. There is a big difference between those who are blind from birth, who realizes that there is a sensory perception unknown to him, but does not live this lack as a deprivation of his life facing social and relational life in complete normality. The diagnosis of RP made by an adult, even with a good residual vision, it sounds like some sort of conviction with no appeal to blindness. The impact of this new reality, it can produce attitudes ranging from depression to isolation, abandonment of the workplace and even the breaking of emotional bonds established previously, while the opposite may result in the denial of the disease pretending nothing, endangering himself and others such as continuing to drive a car. There is also who clinges to illusions, using numerous journeys of hope, the illusion of finding solutions to the problem, but these are constant sources of delusion, every time the person bringing a sense of frustration more and more accentuated.
The psychological life of RP patients is marked by certain situations that remind him of his handicap, some of these moments can be critical when, for example, during adolescence, does not go out at night with friends because he is ashamed to ask for the most enlightened place in pizzeria, or get help at the entrance of cinemas., while in the adult stage these events, we can identify them when to stop driving when you can not read anymore, when it comes time to be accompanied on his travels, etc. ..These situations can greatly affect the social life of the subject with others, coming to make him feel no longer able to protect his family, causing in some cases, isolation from the outside world, and then each of these moments can be the triggers to depression.
Another problem is that of family members, which may relate to the pathology of the joint in different ways, because even in the case of relatives or friends, there are behaviors like overprotectiveness, typical of the parents, the refusal of the disease, rarely having the right and balanced approach to the situations connected.
The discovery of RP is always a trauma for the whole family. The presence of a psychologist experienced in visual impairment at the time of diagnosis can help both the patient and his family members to overcome the initial shock. In addition, the therapist can help the family when the problems of daily life appear.
REad more: Understanding Usher Syndrome