Living in Darkness and Silence: Exploring the World of Usher Syndrome
- Denby Williams
- 10 minutes ago
- 4 min read
If you're like myself, the disease 'Usher Syndrome' was fairly foreign until stumbling across the Every Second Counts campaign advertisement on Hulu starring American author and disability advocate Rebecca Alexander, along with Michael Mullarkey, who was recently diagnosed at the age of 1. The phrase “How would you live your life differently if you knew it was only a matter of time before you went completely deaf and blind?” in particular, is what started the creation of this health literacy piece.
WHAT IS USHER SYNDROME?
As previously hinted at, Usher Syndrome is a rare genetic disorder that causes both hearing and vision loss, along with disequilibrium. It primarily affects the eyes through Retinitis Pigmentosa (RP) - a subgroup of eye diseases that cause the retina to break down slowly throughout childhood, eventually leading to complete blindness in adulthood. Researchers have identified three types of Usher Syndrome correlated with conditions and specific genes:
TYPE 1
Type 1 is associated with mutations in the genes MY07A, USH1C, CDH23, PCHD15, and USH1G. Each of these genes contributes to congenital bilateral-profound hearing loss, loss of night vision during adolescence that progresses to severe vision loss, along with difficulty maintaining equilibrium.
TYPE 2
The genes associated with Type 2 are USH2A, GPR98, and WHRN. Type 2's symptoms are lessened with moderate to severe hearing loss at birth, and loss of night vision during teenage years that progresses to severe vision loss; unlike Type 1, however, the vision loss is much more advanced, and there is no lack of balance. Between Type 1 and Type 2 - they both account for 95% of cases.
TYPE 3
Type 3 Usher syndrome is much more complex in that one gene, CLRN1 (or the clarin-1 protein that leads to the hindered development of sensory cells in the eyes and ears), is primarily responsible. The mutation in these cells, however, does not start until childhood, with mild hearing loss and loss of night vision happening during the teenage years. Balance is more of a varying symptom among individuals.
WHAT CAUSES USHER SYNDROME?
Approximately 4/100,000 children are affected by Usher Syndrome. This diagnosis comes as a shock for most parents since the disorder operates within an autosomal recessive pattern, meaning typically both parents have to be carriers of the genetic mutation without them knowing; this gives it a 1/4 chance or 25% probability. Surprisingly, diagnosis - more specifically, those with Type 2 and 3 - can go unrecognized for years, as dictated by Nancy O'Donnell, who states, "...Families fail to get the support they need to access genetic testing. Children often naturally adapt to slowly progressive and subtle vision loss. Because it is rare, many healthcare professionals and educators are unaware of the signs and symptoms of retinitis pigmentosa, the genetic retinal disease associated with Usher syndrome..."
TREATMENT OF USHER SYNDROME
Although there is no cure for Usher Syndrome, treatment is essential, but it is costly. Early diagnosis ensures the child has adequate motor skills and language development. Typically, a treatment plan involves the inclusion of hearing aids, low vision aids, and balance training with a physical therapist to strengthen coordination. Technology advancements have led to excellent prognoses with prosthetics such as retinal implants and augmented reality glasses. Gregg Suaning has seemingly combined the two with the invention of the bionic eye. It is a pair of glasses with a camera attached to the outside. This camera captures movement from the outside world, sends the images to an app on your phone, which then transfers these images wirelessly via a microchip in your brain. While it does not give the full 'vision experience', it helps remarkably with recognizing obstacles within arm's reach.
An optometrist specialized in low vision rehabilitation is an excellent source; however, there are relatively few to come by in the United States, and insurance coverage from Medicaid will cover only up to 9 hours per week. Fortunately, there has been a recent update in the past 5 months on research regarding gene therapy. Scientists alike have made tremendous progress with AAVANTGARDE BIO’S DUAL-VECTOR USH1B, as it is "the first clinical application of a dual-vector gene delivery system for a retinal disease. AAVB-081 uses an adeno-associated virus (AAV), which works like a vast container system, to deliver healthy copies of the MYO7A gene into retinal cells." (Usher Syndrome Research Advances, 2025) The gene therapy will be injected underneath the retina via a syringe in a one-time dosage. This is currently only applicable to the MY07A gene for Type 1, but laboratories are looking to push studies to USH2A.
Usher Syndrome, while having a devastating impact, holds promising prospects that will need a multidisciplinary approach from audiologists, ophthalmologists, optometrists, and geneticists. It is important to acknowledge the importance of campaigns like Every Second Counts, as they are vital for raising awareness and accelerating research to improve the outcomes of others.
REFERENCES:
All archived science news. Usher Syndrome Coalition. (n.d.).
Chichilnisky, E. J., et al. (n.d.). Research. Stanford Artificial Retina Project. https://med.stanford.edu/artificial-retina/research.html#:~:text=Artificial%20vision%20can%20restore%20sight,output%20neurons%20of%20the%20retina
Usher Syndrome Research Advances. Foundation Fighting Blindness. (2025, July 2). https://www.fightingblindness.org/news/usher-syndrome-research-advances-690#:~:text=ATSENA%20THERAPEUTICS%20DEVELOPING%20USH1B%20GENE,spectrum%20of%20retinal%20degenerative%20diseases
O’Donnell, N. (2023, February). Identification of usher syndrome: Information and resources. National Center on Deafblindness.
U.S. National Library of Medicine. (n.d.). Usher Syndrome. MedlinePlus. https://medlineplus.gov/genetics/condition/usher-syndrome/#:~:text=Usher%20syndrome%20type%20III%20is,hearing%2C%20balance%2C%20and%20vision
U.S. Department of Health and Human Services. (2024, December 6). Genes and Usher syndrome. National Eye Institute.
What is Usher Syndrome?. Cleveland Clinic. (2024, February 13). https://my.clevelandclinic.org/health/diseases/15046-usher-syndrome
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