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The incidence of Usher’s syndrome and its clinical types

Year 2002, Volume: 9 Issue: 1, 15 - 20, 03.01.2002

Abstract

Objectives: We investigated the incidence and types of Usher’s syndrome in normal, hearing handicapped, and visually handicapped individuals.Subjects and Methods: Ushefs syndrome was investi­ gated among 115,000 healthy young males who were screened priorto military service, among patients in whom retinitis pigmentosa was diagnosed at the Ophthalmology Department of Ege University, and among the students of İzmir Tülay Aktaş School for the Deaf and İzmir Aşık Veysel Schoolforthe Blind. Patients with retinitis pigmentosa were evaluated by comprehensive history taking, pedigree draw- ing, ophthalmologic and otolaryngologic examinations, audiovestibular tests, and electroretinography.Results: Ushefs syndrome was detected in only one sub- ject among candidates of military service, in six subjects among 386 students of School for the Deaf, and in three cases among 30 patients with retinitis pigmentosa. None of the students of the School for the Blind had Usher’s syn­ drome. Screening of the patients’ family members revealed eight families with Usher’s syndrome, yielding a total of 15 patients. Consanguinity was documented in five families.Eleven patients 73% had type 1 and four patients 27% had type 2 disease. Type 3 disease was not encountered.Conclusion: Investigation of Usher’s syndrome in patients with hearing loss and impaired Vision in the dark will promote better rehabilitation and monitoring of these patients. Consanguinity should be sought in affected individuals.

References

  • 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: 2 3 5 - 4 0 .
  • Young NM, Mets MB, Hain TC. Early diagnosis of Usher syndrome in infants and children. Am J Otol 1996;17:30-4.
  • Rosenberg T, Haim M, Hauch AM, Parving A. The prevalence of Usher syndrome and other retinal dys- trophy-hearing impairment associations. Clin Genet 1997;51:314-21.
  • Hope CI, Bundey S, Proops D, Fielder AR. Usher syn- drome in the city of Birmingham--prevalence and clin- ical classification. Br J Ophthalmol 1997;81:46-53.
  • Tamayo ML, Maldonado C, Plaza SL, Alvira GM, Tamayo GE, Zambrano M, et al. Neuroradiology and clinical aspects of Usher syndrome. Clin Genet 1996; 50:126-32.
  • Guest M. Helen Keller National Center For Deaf-Blind Youth and Adults. Available from: URL: http://www.familyvillage.wise.edu/lib_ushe.htm.
  • Ed w a rds A, Fishman GA, Anderson RJ, Grover S, Derlacki DJ. Visual acuity and visual field impair- ment in Usher syndrome. Arch Ophthalmol 1998; 11 6 : 1 6 5 - 8.
  • von Camp G, Smith R. Available from: URL: http://web.ukonline.co.vk./hearing.concern/fush.htm.
  • Akyıldız N. Kulak hastalıkları ve mikrocerrahisi-I, 1. baskı Ankara: Bilimsel Tıp Yayınevi; 1998.
  • Günhan Ö, Cura O, Palandöken M, Bilgen V, Kardelen F, Saden F. Kliniğimizdeki pilot sağır-dilsizlik ana oku- lundaki geliflmeler ve eğitim sorunları. EÜTF Dergisi. 1982;21:445-53.

Usher sendromunun sıklığı ve klinik tipleri

Year 2002, Volume: 9 Issue: 1, 15 - 20, 03.01.2002

Abstract

Amaç: Normal toplumda, iflitme ve görme engelli kiflilerde Usher sendromu sıklığını ve sendrom tiplerini ortayaç ı k a r m a k .Olgular ve Yöntemler: Ege Kara Kuvvetleri Hastanesi’ne baflvuran 115 bin birey, Ege Üniversitesi Tıp Fakültesi Göz Hastalıkları Anabilim Dalı’nda 1994-1999 yıllarıarasında retinitis pigmentosa tanısı almıfl hastalar, İzmirTülay Aktafl İflitme Engelliler Okulu öğrencileri ve İzmirAflık Veysel Görme Engelliler Okulu öğrencilerinde tarama ile saptanmıfl kifliler arafltırıldı. Retinitis pigmentosatanısı almıfl olan kiflilerde ayrıntılı anamnez, soyağacı çizimi, oftalmolojik ve KBB muayenesi, odyovestibüler incelemeler ve elektroretinogram yapıldı. Bulgular: Normal kiflilerde 115 bin birey içinde bir olguda; İflitme Engelliler Okulu’nda 386 öğrencinin altısında; Göz Hastalıkları Kliniği’nde retinitis pigmentosa tanısı konan 30 hastanın üçünde Usher sendromu saptandı. Görme Engelliler Okulu’nda Usher sendromunarastlanmadı. Bu hastaların aileleri de tarandığındasekiz ailede toplam 15 kiflide US olduğu görüldü. Beflailede ebeveynlerde akraba evliliği saptandı. On beflhastanın 11’i tip 1, dördü tip 2 olgulardı. Tip 3’e hiç rastlanmadı. Tip 1’in, tip 2’ye oranı 3/1 bulundu.Sonuç: Karanlıkta görme bozukluğu ve iflitme kaybıolan hastalarda Usher sendromunun arafltırılması olguların iflitsel rehabilitasyonu ve klinik izlemi açısındanönem taflımaktadır. Etkilenmifl olgularda akraba evliliğinin sorgulanması gerekir

References

  • 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: 2 3 5 - 4 0 .
  • Young NM, Mets MB, Hain TC. Early diagnosis of Usher syndrome in infants and children. Am J Otol 1996;17:30-4.
  • Rosenberg T, Haim M, Hauch AM, Parving A. The prevalence of Usher syndrome and other retinal dys- trophy-hearing impairment associations. Clin Genet 1997;51:314-21.
  • Hope CI, Bundey S, Proops D, Fielder AR. Usher syn- drome in the city of Birmingham--prevalence and clin- ical classification. Br J Ophthalmol 1997;81:46-53.
  • Tamayo ML, Maldonado C, Plaza SL, Alvira GM, Tamayo GE, Zambrano M, et al. Neuroradiology and clinical aspects of Usher syndrome. Clin Genet 1996; 50:126-32.
  • Guest M. Helen Keller National Center For Deaf-Blind Youth and Adults. Available from: URL: http://www.familyvillage.wise.edu/lib_ushe.htm.
  • Ed w a rds A, Fishman GA, Anderson RJ, Grover S, Derlacki DJ. Visual acuity and visual field impair- ment in Usher syndrome. Arch Ophthalmol 1998; 11 6 : 1 6 5 - 8.
  • von Camp G, Smith R. Available from: URL: http://web.ukonline.co.vk./hearing.concern/fush.htm.
  • Akyıldız N. Kulak hastalıkları ve mikrocerrahisi-I, 1. baskı Ankara: Bilimsel Tıp Yayınevi; 1998.
  • Günhan Ö, Cura O, Palandöken M, Bilgen V, Kardelen F, Saden F. Kliniğimizdeki pilot sağır-dilsizlik ana oku- lundaki geliflmeler ve eğitim sorunları. EÜTF Dergisi. 1982;21:445-53.
There are 11 citations in total.

Details

Primary Language Turkish
Journal Section Research Article
Authors

Fazıl Apaydın This is me

Müslüm Bereketoğlu This is me

Onur Turan This is me

Emel Uçak Avşar This is me

Filiz Afrashi This is me

Publication Date January 3, 2002
Published in Issue Year 2002 Volume: 9 Issue: 1

Cite

APA Apaydın, F., Bereketoğlu, M., Turan, O., Uçak Avşar, E., et al. (2002). Usher sendromunun sıklığı ve klinik tipleri. The Turkish Journal of Ear Nose and Throat, 9(1), 15-20.
AMA Apaydın F, Bereketoğlu M, Turan O, Uçak Avşar E, Afrashi F. Usher sendromunun sıklığı ve klinik tipleri. Tr-ENT. January 2002;9(1):15-20.
Chicago Apaydın, Fazıl, Müslüm Bereketoğlu, Onur Turan, Emel Uçak Avşar, and Filiz Afrashi. “Usher Sendromunun sıklığı Ve Klinik Tipleri”. The Turkish Journal of Ear Nose and Throat 9, no. 1 (January 2002): 15-20.
EndNote Apaydın F, Bereketoğlu M, Turan O, Uçak Avşar E, Afrashi F (January 1, 2002) Usher sendromunun sıklığı ve klinik tipleri. The Turkish Journal of Ear Nose and Throat 9 1 15–20.
IEEE F. Apaydın, M. Bereketoğlu, O. Turan, E. Uçak Avşar, and F. Afrashi, “Usher sendromunun sıklığı ve klinik tipleri”, Tr-ENT, vol. 9, no. 1, pp. 15–20, 2002.
ISNAD Apaydın, Fazıl et al. “Usher Sendromunun sıklığı Ve Klinik Tipleri”. The Turkish Journal of Ear Nose and Throat 9/1 (January 2002), 15-20.
JAMA Apaydın F, Bereketoğlu M, Turan O, Uçak Avşar E, Afrashi F. Usher sendromunun sıklığı ve klinik tipleri. Tr-ENT. 2002;9:15–20.
MLA Apaydın, Fazıl et al. “Usher Sendromunun sıklığı Ve Klinik Tipleri”. The Turkish Journal of Ear Nose and Throat, vol. 9, no. 1, 2002, pp. 15-20.
Vancouver Apaydın F, Bereketoğlu M, Turan O, Uçak Avşar E, Afrashi F. Usher sendromunun sıklığı ve klinik tipleri. Tr-ENT. 2002;9(1):15-20.