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usher_syndrome [2025/02/10 06:05] – 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 congenital 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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   * 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
  
-{{ ::usher_mechanisms_1.png?800 |}}+{{ ::usher_mechanisms_1.jpg?1000 |}}
  
 ---- ----
  
-{{ ::usher_mechanisms_2.png?800 |}}+{{ ::usher_mechanisms_2.jpg?1000 |}}
 **From Resource (1)** **From Resource (1)**
  
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   * 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
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 ====Resources==== ====Resources====
-  - {{::the_genetic_and_phenotypic_landscapes_of_usher_syndrome-from_disease_mechanisms_to_a_new_classification-review_2022.pdf|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}}+  - [[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}}