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Usher syndrome type 1
Disease definition
A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.
ORPHA:231169
Classification level: Subtype of disorderA summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)
Detailed information
General public
- Article for general public
- Français (2012, pdf) - Orphanet
- Español (2016) - GuíaSalud
- Svenska (2021) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Español (2017, pdf) - Ministerio de Sanidad
Disease review articles
- Clinical genetics review
- English (2020) - GeneReviews
Disability
- Disability factsheet
- Français (2015, pdf) - Orphanet
- Español (2017, pdf) - Orphanet
Genetic Testing
- Guidance for genetic testing
- English (2011) - Eur J Hum Genet
- Français (2015, pdf) - ANPGM


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.