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Ocular Findings in Patients with Waardenburg Syndrome

Year 2013, Volume: 15 Issue: 3, 60 - 63, 01.12.2013

Abstract

Waardenburg Syndrome (WS) is a heterogenous group of auditory-pigmentary syndromes.WSis characterized by the association of pigmentation abnormalities, including depigmented patchesof the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss.Hearing loss and other phenotypic expression is highly variable. WS can be seen with afrequency of 1/20000 - 1/42000 in different populations

References

  • Krishtul A, Galadari Y. Waardenburg syndrome: case report. Int J Dermatol 2003;42:651-652
  • Öztürk F, Yavaş G , Ermiş S, Aşağıdağ A. Waardenburg Syndrome Type 1. Ret - Vit 2005: 13 : 65 – 68
  • Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with
  • congenital deafness. Am J Hum Genet 1951;3:195-253.
  • Tosun F, Kertmen M, Yetişer S, Satar B, Özkaptan Y. Waardenburg sendromu: Klinik sınıflama ve üç farklı olgu sunumu. Kulak Burun Boğaz Klinikleri 2000;2:37-40.
  • Konno P., Silm H: Waardenburg syndrome. J. Eur Acad Dermatol Venereol 2001; 15: 330-3.
  • Müllner-Eidenbock A, Moser E, Frish H et al.: Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation. Br J Ophthalmol 2001; 85:1384-1386.
  • Nayak CS, Ysaacson G. Worldwide distribution of Waardenburg syndrome. The Ann Otol Rhinol Laryngol 2003;112:817-820
  • Mosher DB, Fitzpatrick TB, Ortonne JP, Hori Y: Hypomelanoses and hypermelanosis. Dermatology in General Medicine. Ed. Freedberg IM, Ersen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, Fitzpatrick TB.eds, 5th ed, McGraw Hill Co., New York 1999, s:945-1017.
  • Farrer LA, Grundfast KM, Amos J ve ark.: Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consortium. Am J Hum Genet 1992; 50:902-913.
  • Eyibilen A, Bulut S. Waardenburg Sendromu Fırat Tıp Derg 2004;9: 93-95.
  • Black FO, Pesznecker SC, Allen K, Gianna C. A vestibular phenotype for Waardenburg Syndrome? Otol Neurotol 2001; 22: 188-194.
  • Madden C, Halsted MJ, Hopkin RJ, Choo DI, Benton C, Greinwald JH Jr. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope 2003;113:2035-41.
  • Oysu C, Oysu A, Aslan I, Tinaz M. Temporal bone imaging findings in Waardenburg’ s syndrome. Int J Pediatr Otorhinolaryngol 2001; 58: 215-221.
  • Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome. Int J Dermatol 1999; 38: 656– 663.
  • Smith S, Kolodziej P, Olney AH.: Waardenburg syndrome. Ear Nose Throat J 1998;77:257-258
  • Nefesoğlu Ş, Abit F, Şengör T.: Waardenburg's Sendromu. XXV. Ulusal Türk Oft Kong Bült 1991;3:287-289
  • Farrer LA, Grundfast KM, Amos J ve ark.: Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consortium. Am J Hum Genet 1992; 50:902-913
  • Grundfast KM, Atwood JL, Cuong D. Genetics and molecular biology of deafness. Otolaryngol Clin North Am 1999; 32: 1067- 1088.
  • Read AP. Waardenburg Syndrome. In: Kitamura K, Steel KP (Editors). Otorhinolaryngol. Basel: Karger, 2000: 32-38.
  • Black FO, Pesznecker SC, Allen K, Gianna C. A vestibular phenotype for Waardenburg Syndrome? Otol Neurotol 2001; 22: 188-194.
  • Oysu C, Oysu A, Aslan I, Tinaz M. Audiometric manifestations of Waardendurg’ s syndrome. Ear Nose Throat J 2000; 79: 704- 709.
  • Rennie IG.. Don't it make my blue eyes brown: heterochromia and other abnormalities of the iris. Eye (Lond). 2012 Jan;26:29-50.
  • Read AP, Newton VE. Waardenburg syndrome. J Med Genet 1997; 34(8): 656–665.
  • Amoni SS, Abdurrahman MB.: Waardenburg's syndrome: case reports in two Nigerians. J Pediatr Ophthalmol Strabismus 1979;16:172-175
  • Varınlı İ, Genç N, Yalaz M.: Waardenburg Sendromu. TOD XXIII. Ulusal Kong Bült 1989;3:1073-1075.
  • Nork TM, Shihab ZM, Young RSL et al.: Pigment distribution in Waardenburg's syndrome: a new hypothesis. Graefe's Arch Clin Exp Ophthalmol 1986;224:487-492
  • Rundle P, Shields JA, Shields CL et al.: Vasoproliferative tumour of the ocular fundus associated with Waardenburg's syndrome. Eye 2000;14:105-106
  • Kadoi C, Hayasaka S, Yamamoto S.: Branch retinal vein occlusion in a patient with Waardenburg syndrome. Ophthalmologica 1996;210:354-357
  • Moshfeghi DM, Wilson MW, Haik BG et al.: Retinoblastoma metastatic to the ovary in a patient with Waardenburg syndrome. Am J Ophthalmol 2002;133:716-718
  • Mullaney PB, Parsons MA, Weatherhead RG, Karcioglu ZA. Clinical and morphological features of Waardenburg syndrome type II. Eye 1998; 12: 353–357.
  • Gupta V, Aggarwal HC.: Open angle glaucoma as a manifestation of Waardenburg's syndrome. Ýndian J Ophthalmol 2000;48:49-50 32. Jankauskiene A, Dodat H, Deiber M et al.: Multicystic dysplastic kidney associated with Waardenburg syndrome type 1. Pediatr Nephrol 1997;11:744-745
  • Kimura H, Gauntt CD, Kashii S.: Waardenburg's syndrome and pituitary tumor. Acta Ophthalmol 1994;72:642-644
  • Boardman JP, Syrris P, Holder SE.: A novel mutation in the endothelin B receptor gene in a patient with Shah- Waardenburg syndrome and Down syndrome. J Med Genet 2001;38:646 647
  • Thomas AJ, Erickson CA. The making of a melanocyte: the specification of melanoblasts from the neural crest. Pigment Cell Melanoma Res 2008; 21(6): 598–610.
  • Bleehen SS: Disorders of skin colour. Textbook of Dermatology. Ed. Champion RH, Burton JL, Burns DA, Breathnach SM eds, 6th ed., Blackwell Science Ltd, Oxford 1998, s:1753.

Waardenburg Sendromlu Hastalarda Göz Bulguları

Year 2013, Volume: 15 Issue: 3, 60 - 63, 01.12.2013

Abstract

Waardenburg Sendromu (WS) işitsel-pigmenter sendromların heterojen bir grubudur. WS ciltve saçta depigmente yamalar, canlı mavi gözler veya iris heterokromisi ve sensörinöral işitmekaybı bulgularını içeren pigmentasyon anormallikleri ile karakterizedir.İşitme azlığı ve diğerfenotipik özellikler yüksek oranda değişkenlik gösterir.WS değişik toplumlarda 1/20000 ile1/42000 sıklıkta görülebilmektedir

References

  • Krishtul A, Galadari Y. Waardenburg syndrome: case report. Int J Dermatol 2003;42:651-652
  • Öztürk F, Yavaş G , Ermiş S, Aşağıdağ A. Waardenburg Syndrome Type 1. Ret - Vit 2005: 13 : 65 – 68
  • Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with
  • congenital deafness. Am J Hum Genet 1951;3:195-253.
  • Tosun F, Kertmen M, Yetişer S, Satar B, Özkaptan Y. Waardenburg sendromu: Klinik sınıflama ve üç farklı olgu sunumu. Kulak Burun Boğaz Klinikleri 2000;2:37-40.
  • Konno P., Silm H: Waardenburg syndrome. J. Eur Acad Dermatol Venereol 2001; 15: 330-3.
  • Müllner-Eidenbock A, Moser E, Frish H et al.: Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation. Br J Ophthalmol 2001; 85:1384-1386.
  • Nayak CS, Ysaacson G. Worldwide distribution of Waardenburg syndrome. The Ann Otol Rhinol Laryngol 2003;112:817-820
  • Mosher DB, Fitzpatrick TB, Ortonne JP, Hori Y: Hypomelanoses and hypermelanosis. Dermatology in General Medicine. Ed. Freedberg IM, Ersen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, Fitzpatrick TB.eds, 5th ed, McGraw Hill Co., New York 1999, s:945-1017.
  • Farrer LA, Grundfast KM, Amos J ve ark.: Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consortium. Am J Hum Genet 1992; 50:902-913.
  • Eyibilen A, Bulut S. Waardenburg Sendromu Fırat Tıp Derg 2004;9: 93-95.
  • Black FO, Pesznecker SC, Allen K, Gianna C. A vestibular phenotype for Waardenburg Syndrome? Otol Neurotol 2001; 22: 188-194.
  • Madden C, Halsted MJ, Hopkin RJ, Choo DI, Benton C, Greinwald JH Jr. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope 2003;113:2035-41.
  • Oysu C, Oysu A, Aslan I, Tinaz M. Temporal bone imaging findings in Waardenburg’ s syndrome. Int J Pediatr Otorhinolaryngol 2001; 58: 215-221.
  • Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK. Waardenburg syndrome. Int J Dermatol 1999; 38: 656– 663.
  • Smith S, Kolodziej P, Olney AH.: Waardenburg syndrome. Ear Nose Throat J 1998;77:257-258
  • Nefesoğlu Ş, Abit F, Şengör T.: Waardenburg's Sendromu. XXV. Ulusal Türk Oft Kong Bült 1991;3:287-289
  • Farrer LA, Grundfast KM, Amos J ve ark.: Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consortium. Am J Hum Genet 1992; 50:902-913
  • Grundfast KM, Atwood JL, Cuong D. Genetics and molecular biology of deafness. Otolaryngol Clin North Am 1999; 32: 1067- 1088.
  • Read AP. Waardenburg Syndrome. In: Kitamura K, Steel KP (Editors). Otorhinolaryngol. Basel: Karger, 2000: 32-38.
  • Black FO, Pesznecker SC, Allen K, Gianna C. A vestibular phenotype for Waardenburg Syndrome? Otol Neurotol 2001; 22: 188-194.
  • Oysu C, Oysu A, Aslan I, Tinaz M. Audiometric manifestations of Waardendurg’ s syndrome. Ear Nose Throat J 2000; 79: 704- 709.
  • Rennie IG.. Don't it make my blue eyes brown: heterochromia and other abnormalities of the iris. Eye (Lond). 2012 Jan;26:29-50.
  • Read AP, Newton VE. Waardenburg syndrome. J Med Genet 1997; 34(8): 656–665.
  • Amoni SS, Abdurrahman MB.: Waardenburg's syndrome: case reports in two Nigerians. J Pediatr Ophthalmol Strabismus 1979;16:172-175
  • Varınlı İ, Genç N, Yalaz M.: Waardenburg Sendromu. TOD XXIII. Ulusal Kong Bült 1989;3:1073-1075.
  • Nork TM, Shihab ZM, Young RSL et al.: Pigment distribution in Waardenburg's syndrome: a new hypothesis. Graefe's Arch Clin Exp Ophthalmol 1986;224:487-492
  • Rundle P, Shields JA, Shields CL et al.: Vasoproliferative tumour of the ocular fundus associated with Waardenburg's syndrome. Eye 2000;14:105-106
  • Kadoi C, Hayasaka S, Yamamoto S.: Branch retinal vein occlusion in a patient with Waardenburg syndrome. Ophthalmologica 1996;210:354-357
  • Moshfeghi DM, Wilson MW, Haik BG et al.: Retinoblastoma metastatic to the ovary in a patient with Waardenburg syndrome. Am J Ophthalmol 2002;133:716-718
  • Mullaney PB, Parsons MA, Weatherhead RG, Karcioglu ZA. Clinical and morphological features of Waardenburg syndrome type II. Eye 1998; 12: 353–357.
  • Gupta V, Aggarwal HC.: Open angle glaucoma as a manifestation of Waardenburg's syndrome. Ýndian J Ophthalmol 2000;48:49-50 32. Jankauskiene A, Dodat H, Deiber M et al.: Multicystic dysplastic kidney associated with Waardenburg syndrome type 1. Pediatr Nephrol 1997;11:744-745
  • Kimura H, Gauntt CD, Kashii S.: Waardenburg's syndrome and pituitary tumor. Acta Ophthalmol 1994;72:642-644
  • Boardman JP, Syrris P, Holder SE.: A novel mutation in the endothelin B receptor gene in a patient with Shah- Waardenburg syndrome and Down syndrome. J Med Genet 2001;38:646 647
  • Thomas AJ, Erickson CA. The making of a melanocyte: the specification of melanoblasts from the neural crest. Pigment Cell Melanoma Res 2008; 21(6): 598–610.
  • Bleehen SS: Disorders of skin colour. Textbook of Dermatology. Ed. Champion RH, Burton JL, Burns DA, Breathnach SM eds, 6th ed., Blackwell Science Ltd, Oxford 1998, s:1753.
There are 36 citations in total.

Details

Primary Language Turkish
Journal Section Research Article
Authors

Halil İbrahim Önder This is me

Murat Tunç This is me

Harun Yüksel This is me

Fatma Sılan This is me

Murat Kaya This is me

Publication Date December 1, 2013
Published in Issue Year 2013 Volume: 15 Issue: 3

Cite

APA Önder, H. İ., Tunç, M., Yüksel, H., Sılan, F., et al. (2013). Waardenburg Sendromlu Hastalarda Göz Bulguları. Duzce Medical Journal, 15(3), 60-63.
AMA Önder Hİ, Tunç M, Yüksel H, Sılan F, Kaya M. Waardenburg Sendromlu Hastalarda Göz Bulguları. Duzce Med J. December 2013;15(3):60-63.
Chicago Önder, Halil İbrahim, Murat Tunç, Harun Yüksel, Fatma Sılan, and Murat Kaya. “Waardenburg Sendromlu Hastalarda Göz Bulguları”. Duzce Medical Journal 15, no. 3 (December 2013): 60-63.
EndNote Önder Hİ, Tunç M, Yüksel H, Sılan F, Kaya M (December 1, 2013) Waardenburg Sendromlu Hastalarda Göz Bulguları. Duzce Medical Journal 15 3 60–63.
IEEE H. İ. Önder, M. Tunç, H. Yüksel, F. Sılan, and M. Kaya, “Waardenburg Sendromlu Hastalarda Göz Bulguları”, Duzce Med J, vol. 15, no. 3, pp. 60–63, 2013.
ISNAD Önder, Halil İbrahim et al. “Waardenburg Sendromlu Hastalarda Göz Bulguları”. Duzce Medical Journal 15/3 (December 2013), 60-63.
JAMA Önder Hİ, Tunç M, Yüksel H, Sılan F, Kaya M. Waardenburg Sendromlu Hastalarda Göz Bulguları. Duzce Med J. 2013;15:60–63.
MLA Önder, Halil İbrahim et al. “Waardenburg Sendromlu Hastalarda Göz Bulguları”. Duzce Medical Journal, vol. 15, no. 3, 2013, pp. 60-63.
Vancouver Önder Hİ, Tunç M, Yüksel H, Sılan F, Kaya M. Waardenburg Sendromlu Hastalarda Göz Bulguları. Duzce Med J. 2013;15(3):60-3.