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Usher syndrome
| Usher syndrome | |
|---|---|
| Other names | Usher–Hallgren syndrome |
 | |
| Usher syndrome is inherited in an autosomal recessive pattern. The genes implicated in Usher syndrome are described below. | |
| Specialty | Ophthalmology  |
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome,[1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is the most common cause of deafblindness and is at present incurable.
Usher syndrome is classed into three subtypes (I, II and III) according to the genes responsible and the onset of deafness. All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina. These mutations are inherited in an autosomal recessive pattern.
The occurrence of Usher syndrome varies across the world and across the different syndrome types, with rates as high as 1 in 12,500 in Germany[2] to as low as 1 in 28,000 in Norway.[3] Type I is most common in Ashkenazi Jewish and Acadian populations, and type III is rarely found outside Ashkenazi Jewish and Finnish[4] populations. Usher syndrome is named after Scottish ophthalmologist Charles Usher, who examined the pathology and transmission of the syndrome in 1914.
- ^ Mets MB, Young NM, Pass A, Lasky JB (2000). "Early diagnosis of Usher syndrome in children". Transactions of the American Ophthalmological Society. 98: 237–45. PMC 1298229. PMID 11190026.
- ^ Cite error: The named reference
:0was invoked but never defined (see the help page). - ^ Cite error: The named reference
:1was invoked but never defined (see the help page). - ^ Pakarinen L, Tuppurainen K, Laipapala P, Mäntyjärvi M, Puhakka H (1996). "The ophthalmological course of Usher syndrome type III". International Ophthalmology. 19 (5): 307–311. doi:10.1007/BF00130927. PMID 8864816. S2CID 26501078.
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