Waardenburg Syndrome Type 1 and Type 2: Case report

Objective & Hypothesis:Case Report: Waardenburg syndrome (WS) is a rare disorder which has mostly autosomal dominant inheritance with a preva- lence of 1/40.000.

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Key Findings & Data:We herein aimed to present two patients who were diagnosed with WS type 1 and type 2 in this case report.

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Conclusion & Impact:Ophthalmo- logists have important role on diagnosing and early treatment of ocular pathologies.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Case Report: Waardenburg syndrome (WS) is a rare disorder which has mostly autosomal dominant inheritance with a preva- lence of 1/40.000. We herein aimed to present two patients who were diagnosed with WS type 1 and type 2 in this case report. Both cases revealed bilateral sensorineural hearing loss, hetero- chromia iridis and pigmentary deficit in retinal pigment epithe- lium, in addition, the first case revealed dystopia canthorum and the second case revealed anisometropic amblyopia. Ophthalmo- logists have important role on diagnosing and early treatment of ocular pathologies.

Özet

Olgu Sunumu: Waardenburg sendromu (WS) sıklıkla otozomal dominant kalıtım şekline sahip olan ve 1/40.000 sıklığında görü- len nadir bir hastalıktır. Bu olgu sunumunda WS tip 1 ve tip 2 tanısı konulan iki hastayı sunmayı amaçladık. Her iki olguda da iki tarafl ı sensörinöral işitme kaybı, iris heterokromisi ve retina pigment epitelinde yer yer pigmentasyon azlığı varken ek olarak ilk olguda distopia kantorum, ikinci olguda anizometropik amb- liyopi mevcut idi. WS’nun tanısı ve göz patolojilerinin erken dö- nemde tedavisi açısından göz hastalıkları uzmanlarının önemli bir rolü vardır.

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Cite This Article

KÖYLÜ, M. T., GÖKÇE, G., MUMCUOĞLU, T., UYSAL, Y., ÖZGE, G., AKINCIOĞLU, D. (2017). Waardenburg Syndrome Type 1 and Type 2: Case report. Retina-Vitreus, Cilt: 26 - Sayı: 0, 280–282. https://ajindex.com/articles/304944

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