A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I

• Published in: The Laryngoscope Vol. 111; no. 1; p. 84
• Main Authors: Otterstedde, C R, Spandau, U, Blankenagel, A, Kimberling, W J, Reisser, C
• Format: Journal Article
• Language: English
• Published: United States 01.01.2001
• Subjects: Adult; Age Factors; Audiometry, Pure-Tone; Deafness - classification; Deafness - genetics; Evoked Potentials, Auditory - physiology; Evoked Potentials, Auditory, Brain Stem - physiology; Genes, Recessive - genetics; Hearing Loss, Sensorineural - classification; Hearing Loss, Sensorineural - genetics; Humans; Middle Aged; Nystagmus, Physiologic; Retinitis Pigmentosa - classification; Retinitis Pigmentosa - genetics; Syndrome; Vestibular Function Tests; Vestibule, Labyrinth - physiopathology; Vision Disorders - classification; Vision Disorders - genetics
• ISSN: 0023-852X
• DOI: 10.1097/00005537-200101000-00014

Usher's syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. Usher's syndrome is both clinically and genetically heterogeneous. Three clinical types are known today. We conducted a study on 74 patients with Usher's syndrome, performing complete audiological and neurotological examinations. Twenty-six patients had total profound hearing loss and retinitis pigmentosa (Usher's syndrome type I), and 48 patients had moderate to severe sensorineural hearing loss and retinitis pigmentosa (Usher's syndrome type II). We identified 9 of the 26 Usher's syndrome patients with profound hearing loss who showed a normal response to bithermal vestibular testing. The combination of profound hearing loss and normal response to bithermal vestibular testing has not been previously described in Usher's syndrome. Therefore we describe a new subtype of Usher's syndrome type I and suggest a modified clinical classification for Usher's syndrome.