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Usher Syndrome
Usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa
Prevalence
1 / 300
3,310-29,790
US Estimated
5,135-46,215
Europe Estimated
Age of Onset
Childhood
ICD-10
H35.5
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Usher Syndrome is a rare genetic disorder primarily characterized by combined hearing loss and vision impairment, often accompanied by balance issues
FACT
It is a heterogeneous condition with three main clinical types (I, II, III), distinguished by the severity and age of onset of hearing loss, progression of vision loss, and presence of vestibular dysfunction
FACT
Usher Syndrome is inherited in an autosomal recessive pattern, caused by mutations in genes associated with normal development and function of sensory cells in the inner ear and retina
FACT
Symptoms usually manifest as congenital or early-onset sensorineural hearing loss, followed by progressive vision loss due to retinitis pigmentosa, leading to night blindness and peripheral vision loss
FACT
5
Diagnosis involves comprehensive clinical evaluation, audiometry for hearing assessment, ophthalmologic examinations including visual field testing and electroretinography (ERG), and genetic testing to identify mutations in Usher Syndrome-related genes
Interest over time
Google searches
Common signs & symptoms
Sensorineural hearing loss
Progressive vision loss (night blindness → tunnel vision)
Balance issues (in some types)
Motor delay
Current treatments
Hearing aids or cochlear implants
Vision support and low-vision aids
Orientation and mobility training
References:
Millan JM, et al. Usher syndrome. Orphanet J Rare Dis. 2011.
Bonnet C, El-Amraoui A. Usher syndrome. Hum Mol Genet. 2012.