Usher syndrome: Clinical features, diagnostic options, and therapeutic prospects;Klinik, diagnostik und behandlungsoptionen des usher-syndroms

Ophthalmologe

Volumn 106, Issue 6, 2009, Pages 505-511

  Seeliger, M W ^a   Fischer, M D ^a   Pfister, M ^a,b  

^a Bereich Neurodegeneration des Auges

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Cochlear implant; Electroretinography (ERG); Inherited hearing disorder; Optical coherence tomography (OCT); Usher syndrome

Indexed keywords

ARTICLE; HUMAN; USHER SYNDROME;

HUMANS; USHER SYNDROMES;

EID: 67949123171     PISSN: 0941293X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00347-008-1888-7     Document Type: Article

References (18)

1. Adams NA, Awadein A,Toma HS (2007) The retinal ciliopathies. Ophthalmic Genet 28:113-125
2. Auffarth GU,Tetz MR, Krastel H et al (1997) Cataracta complicata bei verschiedenen Formen der Retinitis Pigmentosa. Ophthalmologe 94:642-646
3. Berson EL, Rosner B, Sandberg MA et al (1993) A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol 111:761-772
4. Berson EL, Rosner B, Simonoff E (1980) Risk factors for genetic typing and detection in retinitis pigmentosa. Am J Ophthalmol 89:763-775
5. Damen GW, Pennings RJ, Snik AF, Mylanus EA (2006) Quality of life and cochlear implantation in Usher syndrome type I. Laryngoscope 116:723-728
6. Fishman GA, Anderson RJ, Lourenco P (1985) Prevalence of posterior subcapsular lens opacities in patients with retinitis pigmentosa. Br J Ophthalmol 69:263-266
7. Fishman GA, Young RS, Vasquez V, Lourenço P (1981) Color vision defects in retinitis pigmentosa. Ann Ophthalmol 13:609-618
8. Hashimoto T, Gibbs D, Lillo C et al (2007) Lentiviral gene replacement therapy of retinas in a mouse model for Us her syndrome type 1B. Gene Ther 14:584-594
9. Heckenlively J (1982) The frequency of posterior subcapsular cataract in the hereditary retinal degenerations. Am J Ophthalmol 93:733-738
10. Jacobson SG, Cideciyan AV, Aleman TS et al (2008) Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet 17:2405-2415
11. Kremer H, van Wijk E, Märker T et al (2006) Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet 15:R262-R270
12. Maerker T, van Wijk E, Overlack N et al (2008) A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet 17:71-86
13. Pennings RJ, Damen GW, Snik AF et al (2006) Audiologic performance and benefit of cochlear implantation in Usher syndrome type I. Laryngoscope 116:717-722
14. Pinckers A, van Aarem A, Keunen JE (1993) Colour vision in retinitis pigmentosa. Influence of cysto id macular edema. Int Ophthalmol 17:143-146
15. Reiners J, Nagel-Wolfrum K, Jürgens K et al (2006) Molecular basis of human Usher syndrome: deciphering the meshes of the Usher pro-tein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 83:97-119
16. Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M (2009) Update on Usher syndrome. Curr Opin Neurol 22:19-27
17. Seeliger M, Kretschmann U, Apfelstedt-Sylla E et al (1998) Multifocal electroretinography in retinitis pigmentosa. Am J Ophthal mol 125:214-226
18. Seeliger MW, Zrenner E, Apfelstedt-Sylla E, Jaissle GB (2001) Identification of Usher syndrome subtypes by ERG implicit time. Invest Ophthalmol Vis Sci 42:3066-3071