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Usher syndrome


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 Question

Since 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.    

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Usher syndrome?

Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.[1]
Last updated: 3/3/2014

What are the signs and symptoms of Usher sydrome?

Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by their severity, and the age when signs and symptoms appear. These types are also further divided into subtypes.[1]

People 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 occurs 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.[1]

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.[1]

People with Usher syndrome type III have 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 have problems with balance due to inner ear problems. These problems vary among affected individuals.[1]

Last updated: 3/3/2014

Are irregular menstrual cycles, migraine headaches, and obesity symptoms of Usher syndrome?

No, these symptoms are not usually associated with Usher syndrome.
Last updated: 9/1/2009

What are ciliopathies?

Cilia, tiny hair-like organelles that project from cell surfaces, perform diverse biological roles including whole-cell locomotion, movement of fluid, chemo-mechano- and photosensation, and sexual reproduction. [2] Cilia have a broad tissue distribution and are present on most cell types in the human body. Doctors and scientists are just now beginning to understand how defects in cilia can cause disease and dysfunction.[3] Defects in cilia are associated with a range of human diseases which have come to be called "ciliopathies". [2][3]


Last updated: 9/1/2009

What are the symptoms of ciliopathies?

Ciliopathies have a broad range of features encompassing a number of different autosomal recessive and dominant syndromes.[3] Systemic findings include neurosensory hearing loss, developmental delay, situs-inversus (where some or all of the organs are reversed), infertility, disorders of limb and digit formation, obesity, kidney disease, liver disease, and respiratory disease.[2][4] 

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.[2]


Last updated: 9/1/2009

Is Usher syndrome a ciliopathy?

Yes. Although the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins results in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes. Retinal degeneration associated with Usher syndrome is indeed a retinal ciliopathy. Understanding that this condition is a ciliopathy may help the ophthalmologist to recognize associations between seemingly unrelated symptoms or diseases and keep a better eye out for systemic findings that may be present.[4]
Last updated: 9/1/2009

Since my daughter has Usher syndrome and Usher syndrome is a ciliopathy, will my daughter exhibit symptoms of other ciliapathies? 

The answer to this question is unclear at this time and may depend on a number of variables. What is understood is that individuals with ciliopathies often do exhibit systemic features which have been associated with this type of condition. Systemic findings including neurosensory hearing loss, developmental delay, situs-inversus, infertility, disorders of limb and digit development, obesity, kidney disease, liver disease, and respiratory disease are commonly associated with the ciliopathies and may be seen in individuals regardless of their specific diagnosis.[4]

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.
Last updated: 9/1/2009

References