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usher_syndrome [2025/01/13 20:17] – Scott Larsonusher_syndrome [2026/01/26 19:48] (current) – [Epidemiology] Scott Larson
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 ====Other Findings==== ====Other Findings====
   * Progressive retinal degeneration, course depends on the gene affected   * Progressive retinal degeneration, course depends on the gene affected
-    * USH type 1 = profound congenital hearing loss and early vision loss (most severe) +    * USH type 1 = profound congenital hearing loss and early vision loss  
-    * USH type 2 = RP by the second decade, moderate to severe congentital hearing loss and no vestibular abnormalities (most severe)+    * USH type 2 = RP by the second decade, moderate to severe congenital hearing loss and no vestibular abnormalities 
     * USH type 3 = Progressive and variable hearing loss, RP and vestibular abnormalities     * USH type 3 = Progressive and variable hearing loss, RP and vestibular abnormalities
     * Significant overlap among subtypes     * Significant overlap among subtypes
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     * abnormal formation of cilia      * abnormal formation of cilia 
   * Major genes affected   * Major genes affected
-    * USH1B (MYO7A) +    * USH1 genes  
-    * USH1C +      * MYO7A, USH1C, PDCH15, CDH23, USH1G 
-    * CDH23 +    * USH2 genes 
-    * USH 1F (PCDH15) +      * USH2A, ADGRV1, WHRN 
-    * USH2A +    * USH3 gene- CLRN1 
-    * USH3A+  * Other genes implicated but need classification 
   * Usher genes encode for proteins expressed in the inner ear and retina where they provide essential functions for the development of sensory hair cells and photoreceptor maintenance   * Usher genes encode for proteins expressed in the inner ear and retina where they provide essential functions for the development of sensory hair cells and photoreceptor maintenance
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 +{{ ::usher_mechanisms_1.jpg?1000 |}}
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 +----
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 +{{ ::usher_mechanisms_2.jpg?1000 |}}
 +**From Resource (1)**
 +
 ====Epidemiology==== ====Epidemiology====
   * Prevalence    * Prevalence 
     * Worldwide 4-17 per 100,000      * Worldwide 4-17 per 100,000 
-    * USA 4.4 per 100,000+    * USA 4.4 per 100,000  (1 in 22,700)
   * Most common cause for hereditary deafness and blindness    * Most common cause for hereditary deafness and blindness 
     * 5% of all congenital deafness     * 5% of all congenital deafness
     * 18% of retinitis pigmentosa cases      * 18% of retinitis pigmentosa cases 
  
-====Reference==== +====Resources==== 
-  * [[link|Title]]+  - [[https://1drv.ms/b/c/31d83ae8e55e0542/ESXQrfdB1iFPjqxaSiU7e2QBiHDSnODKNTKkumkTbIEbiw?e=rbVseI|Delmanghani S et al. The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification. Human Genetics 2022;141:709-735]]
  
 {{tag>syndrome}} {{tag>syndrome}}