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.

Pre-Test Probability (Prevalence): %.	Post-Test Probability (Predictive Value): %.	Switch to display mode.
Note that calculating probabilities from more than one** finding is inherently inaccurate because findings are not independent. (For example, using two positive findings that share a common pathogenesis is likely to overestimate the true probability.)


Finding	Result	Sensitivity	Specificity
[ + ] retinitis pigmentosa		No accuracy specified.
Progressive Study: no study specified.
[ + ] Sensorineural hearing loss (SNHL)		No accuracy specified.
Study: no study specified.
[ + ] vestibular dysfunction		No accuracy specified.
Study: no study specified.