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| usher_syndrome [2025/01/17 16:04] – Scott Larson | usher_syndrome [2026/01/26 19:48] (current) – [Epidemiology] Scott Larson | ||
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| ====Other Findings==== | ====Other Findings==== | ||
| * Progressive retinal degeneration, | * Progressive retinal degeneration, | ||
| - | * 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 | + | * 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, |
| - | * 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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| + | **From Resource (1)** | ||
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| ====Epidemiology==== | ====Epidemiology==== | ||
| * Prevalence | * Prevalence | ||
| * Worldwide 4-17 per 100, | * Worldwide 4-17 per 100, | ||
| - | * USA 4.4 per 100,000 | + | * USA 4.4 per 100, |
| * 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==== |
| - | | + | |
| {{tag> | {{tag> | ||