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usher_syndrome [2025/06/14 02:30] – [Resources] 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?1000 |}}+{{ ::usher_mechanisms_1.jpg?1000 |}}
  
 ---- ----
  
-{{ ::usher_mechanisms_2.png?1000 |}}+{{ ::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