Usher syndrome

Usher syndrome is an inherited condition combining sensorineural hearing loss with progressive vision loss from retinitis pigmentosa; some forms also affect balance.

Retinitis pigmentosa: A group of inherited retinal disorders that progressively damage photoreceptors, often causing night blindness and narrowing visual fields. This retinal disease causes the progressive vision loss characteristic of Usher syndrome.
Usher syndrome type 1: The most severe Usher syndrome form, typically involving profound congenital hearing loss, vestibular dysfunction, and early retinal degeneration. It illustrates how variants affecting inner-ear development can produce all three major symptom groups.
Electroretinography: A test that records the retina’s electrical response to flashes of light. It can reveal retinal dysfunction and support evaluation of suspected Usher syndrome.
Gene therapy: A treatment approach that adds, replaces, or alters genetic material to address disease. Researchers are investigating gene-based treatments for specific Usher syndrome subtypes.
Sensorineural hearing loss: Hearing impairment caused by damage or dysfunction in the inner ear or auditory nerve. This is the hearing impairment paired with retinal degeneration in Usher syndrome.
Usher syndrome type 2: An Usher syndrome form usually marked by congenital moderate-to-severe hearing loss and later-onset retinitis pigmentosa, with balance generally preserved. Its usual symptom pattern differs from type 1 in hearing severity and vestibular function.
Audiometry: The measurement of hearing sensitivity across sound frequencies and intensities. It characterizes the type and severity of hearing loss associated with the syndrome.
Antisense oligonucleotide: A short synthetic nucleic acid designed to alter RNA processing or expression of a target gene. These molecules are being studied to correct certain Usher-associated RNA-processing defects.
Hair cell: A sensory cell in the inner ear that converts mechanical vibrations into electrical signals. Variants in several Usher genes disrupt hair cells, producing hearing loss and sometimes vestibular dysfunction.
Usher syndrome type 3: An Usher syndrome form in which hearing loss and vision loss often progress after birth; vestibular involvement varies. Progressive hearing loss distinguishes this subtype from the typically congenital hearing loss of types 1 and 2.

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