Usher Syndrome: Sensitivity and Specificity

Introduction:

The Usher syndromes (US) are a genetically and clinically heterogeneous group of diseases characterized by SNHL, retinitis pigmentosa, and often vestibular dysfunction.

Type 1: severe to profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa that develops in childhood

Type 2: moderate to severe congenital hearing loss, with uncertainty related to progression, no vestibular dysfunction, and retinal degeneration that begins in the third to fourth decade

Type 3: progressive hearing loss, variable vestibular dysfunction, and variable onset of retinitis pigmentosa

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Prevalence

Population / Calculator	Prevalence	Comments / Study / Link
Overall U.S. population	0.004%	PMID:6885960
Congenitally deaf	3%	3-6% of congenitally deaf PMID:6885960
Deaf-blind individuals in U.S.	50%	50% of deaf-blind individuals in U.S. PMID:6885960
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The sensitivity and specificity of findings for Usher Syndrome are listed below. See the left navigation bar to change the display.

Finding	Sensitivity	Specificity	Comments, Study
Sensorineural hearing loss (SNHL)	No accuracy specified.		Study: no study specified.
retinitis pigmentosa	No accuracy specified.		Progressive Study: no study specified.
vestibular dysfunction	No accuracy specified.		Study: no study specified.