Usher syndrome

Orpha code: 886OMIM code: 611383

Definition

A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.

Disease data
Classification

Disease

Synonyms
Retinitis pigmentosa-deafness syndrome
USH
Zwyrodnienie barwnikowe siatkówki - głuchota
Retinitis pigmentosa-hearing loss syndrome
USH
ORPHA code
886
OMIM code
611383
ICD10 code
H35.5
ICD11 code
LD2H.4

No additional description.

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