Hereditary Hemorrhagic Telangiectasia Diagnosed by the Ophthalmologist


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Abstract

Purpose.To show the clinical features of a case of hereditary hemorrhagic telangiectasia in which the diagnosis was prompted by ophthalmologic examination.Methods.A retrospective case review of a 56-year-old East Indian woman whose presentation to the eye clinic with a history of bloody tears and conjunctival vascular malformations prompted a systemic evaluation that resulted in the diagnosis of hereditary hemorrhagic telangiectasia.Results.The diagnosis of hereditary hemorrhagic telangiectasia was eventually confirmed by gastrointestinal endoscopy and otorhinolaryngologic examination.Conclusion.Although hereditary hemorrhagic telangiectasia is typically diagnosed on the basis of gastrointestinal and otorhinolaryngologic history and examination, the ophthalmologic features of this case were striking enough to arouse suspicion of this disease.

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