Differences
This shows you the differences between two versions of the page.
| Both sides previous revision Previous revision Next revision | Previous revision | ||
| usher_syndrome [2025/01/13 20:12] – Scott Larson | usher_syndrome [2026/01/26 19:48] (current) – [Epidemiology] Scott Larson | ||
|---|---|---|---|
| Line 1: | Line 1: | ||
| ====== Usher Syndrome ====== | ====== Usher Syndrome ====== | ||
| - | abbreviated as USH | + | often abbreviated as USH |
| ====Main Features==== | ====Main Features==== | ||
| * Retinitis Pigmentosa | * Retinitis Pigmentosa | ||
| - | * Progressive retinal degeneration, | ||
| - | * USH type 1 = profound congenital hearing loss and early vision loss (most severe) | ||
| - | * USH type 2 = RP by the second decade, moderate to severe congentital hearing loss and no vestibular abnormalities (most severe) | ||
| - | * USH type 3 = Progressive and variable hearing loss, RP and vestibular abnormalities | ||
| - | * Significant overlap among subtypes | ||
| * Sensorineural hearing loss | * Sensorineural hearing loss | ||
| * Vestibular disturbances | * Vestibular disturbances | ||
| Line 14: | Line 9: | ||
| ====Eye Findings==== | ====Eye Findings==== | ||
| * Retinitis Pigmentosa | * 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==== | ====Other Findings==== | ||
| - | * | + | * Progressive retinal degeneration, |
| + | * 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==== | ====Etiology==== | ||
| * Autosomal Recessive inheritance | * Autosomal Recessive inheritance | ||
| Line 22: | Line 28: | ||
| * 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 | ||
| + | |||
| + | {{ :: | ||
| + | |||
| + | ---- | ||
| + | |||
| + | {{ :: | ||
| + | **From Resource (1)** | ||
| + | |||
| ====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> | ||