U

 

Usher sendromu

(tip I ve II; Graefe-Usher sendromu, Hallgren sendromu)

Kalıtsal - AR

19 fenotip; Tip I ve Tip II ön planda

Tip I ve Tip II farkı: nörolojik gelişme tip II’de görece daha erken

Konjenital progressif işitme sorunları

Retinitis pigmentosa (görme kaybı)

Katarakt

Mine hipoplazisi (tip I)

Motor gelişme geriliği

Hipotoni

 

  • Pennings RJ, Huygen PL, Orten DJ, Wagenaar M, van Aarem A, Kremer H, Kimberling WJ, Cremers CW, Deutman AF. Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. Acta Ophthalmologica Scandinavica, 82:131–139, 2004

  • Balmer R, Fayle SA. Enamel defects and ectopic eruption in a child with Usher syndrome and a cochlear implant. International Journal of Paediatric Dentistry, 17:57–61, 2007

  • Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M. Update on Usher syndrome. Current Opinion in Neurology, 22(1):19-27, 2009

  • Mathur P, Yang J. Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochimica et Biophysica Acta, 1852(3):406-420, 2015

  • Ahmed ZM, Jaworek T, Sarangdhar GN, et al. Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. Journal of Medical Genetics, 55: 479-488, 2018