Öz
Usher sendromu US konjenital işitme kaybı ile birlikte seyreden retinitis pigmentozaya RP bağlı progressif görme bozukluğu ile ortaya çıkan otozomal resesif bir hastalıktır. Görme ile ilgili şikayetleri ve bilateral sensorinöral işitme kaybına sahip 3 kız kardeşi olgu olarak sunduk. Burada bilateral sensorinöral işitme kaybı ile gelen hastalarda göz problemlerinin de sorgulanması gerektiğini vurguladık
Anahtar Kelimeler
Kaynakça
- ) Lee KJ. Essential otolaryngology: head and neck surgery. 7th ed. New York: Appleton-Lange; 1998.
- ) Tamayo ML, Rodriguez A, Molina R, Martinez M, Bernal JE. Social, familial and medical aspects of Usher syndrome in Colombia. Genet Couns. 1997; 8(3): 235-40.
- ) Williams DS. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res. 2008 48(3):433-41. Epub 2007 Oct 2
- ) Karadag O, Özdil ŞE, Kugu S, Çömez AT, Dogan ÖK. Usher Sendromlu iki Kız Kardeş. T. Oft. Gaz. 38, 346-349, ) Mets MB, Young NM, Pass A, Lasky JB. Early diagnosis of Usher syndrome in children. Trans Am Ophthalmol Soc. ;98:237-42; discussion 243-5. ) El-Amraoui A, Petit C. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci. ;15;118(Pt 20):4593-603.
- ) Edwards A, Fishman GA, Anderson RJ, Grover S, Derlacki DJ. Visual acuity and visual field impairment in Usher syndrome. Arch Ophthalmol. 1998; 116(2): 165-8.
- ) Parajah SK,Acharya M, Sarvanan A,kongaserri S,Behere VR, Sharma PSVN. Tip II Usher Sendromu ile İlişkili Mani Türk Psikiyatri Dergisi 2012;23(3):219-21
- ) Hashimoto T, Gibbs D, Lillo C, Azarian SM, Legacki E, Zhang XM, Yang XJ, Williams DS. Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. Gene Ther. 2007;14(7):584-94. Epub Feb 1.
Öz
Usher syndrome is an autosomal recessive disorder characterized by a congenital sensorineural hearing loss of varying severity and a progressive visual loss and nyctalopia night blindness secondary to retinitis pigmentosa. Here we present three case with bilateral sensorineural hearing loss and visual problems. Here it is emphazised that visual problems should be questioned in patients with bilateral sensorineural hearing loss
Anahtar Kelimeler
Kaynakça
- ) Lee KJ. Essential otolaryngology: head and neck surgery. 7th ed. New York: Appleton-Lange; 1998.
- ) Tamayo ML, Rodriguez A, Molina R, Martinez M, Bernal JE. Social, familial and medical aspects of Usher syndrome in Colombia. Genet Couns. 1997; 8(3): 235-40.
- ) Williams DS. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res. 2008 48(3):433-41. Epub 2007 Oct 2
- ) Karadag O, Özdil ŞE, Kugu S, Çömez AT, Dogan ÖK. Usher Sendromlu iki Kız Kardeş. T. Oft. Gaz. 38, 346-349, ) Mets MB, Young NM, Pass A, Lasky JB. Early diagnosis of Usher syndrome in children. Trans Am Ophthalmol Soc. ;98:237-42; discussion 243-5. ) El-Amraoui A, Petit C. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci. ;15;118(Pt 20):4593-603.
- ) Edwards A, Fishman GA, Anderson RJ, Grover S, Derlacki DJ. Visual acuity and visual field impairment in Usher syndrome. Arch Ophthalmol. 1998; 116(2): 165-8.
- ) Parajah SK,Acharya M, Sarvanan A,kongaserri S,Behere VR, Sharma PSVN. Tip II Usher Sendromu ile İlişkili Mani Türk Psikiyatri Dergisi 2012;23(3):219-21
- ) Hashimoto T, Gibbs D, Lillo C, Azarian SM, Legacki E, Zhang XM, Yang XJ, Williams DS. Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. Gene Ther. 2007;14(7):584-94. Epub Feb 1.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Research Article |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2015 |
| Yayımlandığı Sayı | Yıl 2015 Cilt: 19 Sayı: 3 |