Usher Syndrome

Can you imagine what it means to lose your hearing, sight, and balance all at once, to be stuck in a world of struggle? That’s called Usher Syndrome. This is a syndrome of three different types that causes patients three different symptoms. These are hearing loss, vision decline, and possible balance issues, all three of which may differ in terms of timings across the three types. The reason I wanted to bring this topic into perspective today is because I wanted to bring about some awareness to the people who have it, how difficult it can be to manage, as the syndrome isn’t physically perceived. 

The first and most common type of Usher Syndrome is Type 1, which means a person typically has profound hearing loss/deafness from birth, as mentioned by the National Insittute of Health last revised on October 8, 2020. They typically have a decline in eye vision by early to middle childhood, particularly night vision and peripheral vision. Type 1 patients also lose balance, which cannot be physically explained if you were to do the knee hammer test, which is what happened to me as well. To battle deafness, people either start for a cochlear implant or continue to stay deaf and learn ASL. As for vision issues, glasses are what's typically recommended. Healthy diets are also there to prevent gradual decline of vision. The thing is, if it targets the ears first, why does it also extend to the eyes and legs? It’s because all of the three parts of the body are connected, actually. For Usher Syndrome specifically, the vision gets worse because of RP, or retinitis pigmentosa, a rare eye disease in which the retina is damaged and releases pigments that can disturb normal vision. As this is the most severe type of Usher Syndrome, it causes the most struggles as well. Normal activities, such as driving or navigating a dark movie theater, can prove to be very difficult tasks for that person, and can also lead to fear of what they cannot perceive. For example, if a person is in a dark room lit up by a dim candle, you can obviously see a good portion of your surroundings. However, a person of Type 1 will not even be able to see anything but the candlelight itself, and can lead to insecurity or fear of the dark. For me, I can navigate dark surroundings, but it does take a lot of trust in myself to make sure I don’t fall over a cliff or something. Similarly, there are many factors in which a person with Type 1 can find their symptoms to be frustrating in daily tasks. However, if the symptoms are managed by using proper strategies that can contain these symptoms, then the decline slows but is not permanently cured.

Another type of Usher Syndrome is Type 2, which has almost the same symptoms that I just mentioned for Type 1, but the timings are different. According to the National Eye Institute updated on December 4, 2024, people with Type 2 will usually have “moderate to severe hearing loss in early childhood, loss of night vision by teenage years, with severe vision loss by midlife, normal balance.” Since a patient is born with hearing at first, they may choose to start with hearing aids or choose to stay deaf. As hearing continues to decrease to the point where you can only hear loud sounds, you are “legally deaf,” and it may be a good idea to transition to cochlear implant surgery. The only con of this surgery is that it is less risky to do so before five years of age, as the skull bone is more softer, whereas later in adulthood the skull bone has already long matured and may be difficult to deal with when implanting the magnet responsible for transmitting sounds. Vision loss is typically managed with glasses or eye drops to manage retinitis pigmentosa. As a quick note, across all the three types, there are many accommodations in school that a student with this syndrome can use, such as preferential seating, like sitting in the front, microphones for the teacher to better transmit messages to the student, closed captioning on videos, and so forth. Hearing aids can only do so much to restore a good portion of your hearing, but cochlear implants prove to be harder. As it is risky to implant both ears before five years of age, if not ten years, some patients typically have only one cochlear implant, but the majority will risk it and have two cochlear implants, or some will have one hearing aid and one cochlear implant. We call people with one cochlear implant unilateral, which means one-sided, and bilateral if two-sided, or both sides. I have bilateral hearing loss, which means I have hearing loss on both ears, but I am unilateral by hearing because I have a cochlear implant on my left ear, which is the only ear I can hear out of. If you whisper to me on my right, good luck. It’s not that I didn’t do the surgery on my right ear, I did, but the suture that was healing had an infection, there was a hole in my head, and I had a dangerous fever, and so they moved it to my left, which was a success. Everyone’s story is uniquely different, however. 

The last and most rare type of Usher Syndrome is Type 3, with a much later start date for the symptoms. An article on Usher Syndrome from Cleveland Clinic last updated on December 6, 2024, states that a patient born “...with Type 3 Usher Syndrome have typical hearing and vision when they’re born. They begin to develop hearing loss in late childhood and vision loss in early to mid-adulthood.” They also have normal balance, so there won't be any issues there as well. People manage hearing loss with hearing aids, then cochlear implants, as hearing decline is much slower for them. They also begin to wear glasses, although eye drops won’t help at a late age in time. However, as this is rare and people mistake hearing and vision decline for signs of aging, Type 3 might actually be more common than previously thought, but what prevents us from knowing this is the fact that this syndrome may actually be overlooked. It is the way that we see this as aging signs that we often treat it that way rather than how we would treat people of Types 1 and 2. Daily tasks become harder by late adulthood, such as seeing in the dark, driving at later ages, climbing stairs with ease, or even seeing from afar! This is the easiest type of Usher Syndrome to manage as well. 

So now you can understand how Usher Syndrome affects a person’s life and the actions that they must undertake to overcome these challenges. We’ve covered the three types of Usher Syndrome, explained what makes each type unique, and talked about how to manage symptoms from worsening, If you ever meet someone, like me, of any of the three types, now you know what a person of Usher Syndrome goes through, and I hope that gives you a new perspective of another person’s lifestyle. Thank you. 

Works Cited

Cleveland Clinic. (2016). Usher Syndrome Symptoms, Types & Treatment | Cleveland Clinic. Cleveland Clinic. 
https://my.clevelandclinic.org/health/diseases/15046-usher-syndrome

Genes and Usher Syndrome | National Eye Institute. (2021, November 10).
Www.nei.nih.gov. 
https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/
usher-syndrome/genes-and-usher-syndrome

Koenekoop, Robert K. “Usher Syndrome Type I.” GeneReviews® [Internet]., U.S. National Library of Medicine, 8 Oct. 2020,
www.ncbi.nlm.nih.gov/books/NBK1265/. 

National Eye Institute. (2021, December 14). Usher Syndrome | National Eye Institute.
www.nei.nih.gov. https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/usher-syndrome

What Is Usher Syndrome. (2019, June 27). What Is Usher Syndrome? American Academy of Ophthalmology.
https://www.aao.org/eye-health/diseases/what-is-usher-syndrome