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--- usher_syndrome [2025/01/13 14:55] – created Scott Larson
+++ usher_syndrome [2026/01/26 19:48] (current) – [Epidemiology] Scott Larson
@@ Line 1: / Line 1: @@
 ====== Usher Syndrome ======
+often abbreviated as USH
+====Main Features====
+  * Retinitis Pigmentosa
+  * Sensorineural hearing loss
+  * Vestibular disturbances
+====Eye Findings====
+  * Retinitis Pigmentosa
+    * Pigmentary retinopathy with degeneration of the RPE
+    * Optic disc pallor
+    * Retinal arteriolar attenuation
+    * Symptoms
+      * Decreased visual acuity
+      * Nyctalopia
+      * Peripheral visual field deterioration
+====Other Findings====
+  * Progressive retinal degeneration, course depends on the gene affected
+    * 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
+    * USH type 3 = Progressive and variable hearing loss, RP and vestibular abnormalities
+    * Significant overlap among subtypes
+====Etiology====
+  * Autosomal Recessive inheritance
+  * Included in the category of ciliopathy
+    * abnormal formation of cilia
+  * Major genes affected
+    * USH1 genes
+      * MYO7A, USH1C, PDCH15, CDH23, USH1G
+    * USH2 genes
+      * USH2A, ADGRV1, WHRN
+    * USH3 gene- CLRN1
+  * 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_mechanisms_1.jpg?1000 |}}
+----
+{{ ::usher_mechanisms_2.jpg?1000 |}}
+**From Resource (1)**
+====Epidemiology====
+  * Prevalence
+    * Worldwide 4-17 per 100,000
+    * USA 4.4 per 100,000  (1 in 22,700)
+  * Most common cause for hereditary deafness and blindness
+    * 5% of all congenital deafness
+    * 18% of retinitis pigmentosa cases
+====Resources====
+  - [[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}}

syndrome