Other Names for this Disease
- Deafness-retinitis pigmentosa syndrome
- Dystrophia retinae pigmentosa-dysostosis syndrome
- Graefe-Usher syndrome
- Hallgren syndrome
- Usher's syndrome
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Your QuestionSince Usher syndrome is a ciliopathy, will my daughter who has it exhibit symptoms of other ciliopathies? She has many chronic health problems including irregular menstrual cycles, migraine headaches, and obesity.
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Questions on this page
- What is Usher syndrome?
- What are the signs and symptoms of Usher sydrome?
- Are irregular menstrual cycles, migraine headaches, and obesity symptoms of Usher syndrome?
- What are ciliopathies?
- What are the symptoms of ciliopathies?
- Is Usher syndrome a ciliopathy?
- Since my daughter has Usher syndrome and Usher syndrome is a ciliopathy, will my daughter exhibit symptoms of other ciliapathies?
Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by their severity, the age when signs and symptoms appear. These types are also further divided into subtypes.
Individuals with Usher syndrome type I are typically born completely deaf or lose most of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also includes problems with the inner ear that affect balance. As a result, children with the condition begin sitting independently and walking later than usual.
Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects high tones. Affected children have problems hearing high, soft speech sounds, such as those of the letters "d" and "t." The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type II do not have difficulties with balance caused by inner ear problems.
People with Usher syndrome type III experience progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants with Usher syndrome type III are usually born with normal hearing. Hearing loss typically begins during the first two decades of life, after the development of speech, and progresses over time. By middle age, most affected individuals are profoundly deaf. Vision loss caused by retinitis pigmentosa develops in late childhood or adolescence. People with Usher syndrome type III may also experience difficulties with balance due to inner ear problems. These problems vary among affected individuals, however.
Some examples of ciliopathies include primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. More recent evidence suggests that ciliary defects also contribute to a broader set of developmental and adult conditions such as nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome.
For the best assessment of your daughter's risk to develop these symptoms and/or to determine if her current symptoms may be attributed to a ciliopathy, please consult with her doctors.
- Usher syndrome. Genetic Home Reference (GHR). February 2007; http://ghr.nlm.nih.gov/condition/usher-syndrome. Accessed 9/20/2011.
- Badano JL, Mitsuma N, Beales PL, Katsanis N. Annu Rev Genomics Hum Genet. 2006; http://www.ncbi.nlm.nih.gov/pubmed/16722803. Accessed 9/1/2009.
- UM, Logan CV, Johnson CA. Journal of Medical Genetics. 2008; http://jmg.bmj.com/cgi/content/full/45/5/257. Accessed 9/1/2009.
- Adams NA, Awadein A, Toma HS. Ophthalmic Genet. 2007; http://www.ncbi.nlm.nih.gov/pubmed/17896309. Accessed 9/1/2009.