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首页> 外文期刊>Cornea >Recurrent granular dystrophy of the cornea: an unusual case.
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Recurrent granular dystrophy of the cornea: an unusual case.

机译：复发性角膜颗粒营养不良：一种不常见的情况。

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摘要

PURPOSE: To describe a case of severe corneal granular dystrophy with clinicopathologic and molecular genetic findings. METHODS: The DNAs of a 53-year-old male patient suffering from corneal granular dystrophy and nonaffected family members were analyzed by molecular genetic methods. Clinical features, and histopathologic and immunohistochemical findings from the penetrating keratoplasty specimen, are described. RESULTS: Histopathologic and molecular genetic findings confirmed the diagnosis. A new genetic polymorphism is described. Histopathologic evidence supports the assumption of the epithelial origin of the described dystrophy. CONCLUSIONS: A severe course of corneal granular dystrophy can be present in the absence of evidence of a homozygous mutational status, or a novel mutation. Molecular genetic analysis revealed a new polymorphism in this patient. The histopathologic findings support the assumption of an epithelial origin of the granular corneal deposits. Phototherapeutic keratectomy and penetrating keratoplasty may improve vision, but cannot prevent recurrence of the disease.
机译：目的：描述具有临床病理和分子遗传学发现的严重角膜颗粒营养不良的病例。方法：采用分子遗传学方法分析了53岁男性角膜颗粒营养不良和未受影响家庭成员的DNA。描述了临床特征，以及穿透性角膜移植标本的组织病理学和免疫组织化学结果。结果：组织病理学和分子遗传学结果证实了诊断。描述了一种新的遗传多态性。组织病理学证据支持所描述的营养不良的上皮起源的假设。结论：在没有纯合突变状态或新突变证据的情况下，可出现严重的角膜颗粒营养不良病程。分子遗传学分析显示该患者有新的多态性。组织病理学结果支持了角膜颗粒沉积的上皮起源的假设。光疗性角膜切除术和穿透性角膜移植术可以改善视力，但不能预防疾病的复发。

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