Frising Martine, Wildhardt Gabriele, Frisch Lars, Pitz Susanne
Department of Ophthalmology, Johannes Gutenberg-University, Langenbeckstr. 1, 55101 Mainz, Germany.
Cornea. 2006 Jun;25(5):614-7. doi: 10.1097/01.ico.0000214202.84081.a5.
To describe a case of severe corneal granular dystrophy with clinicopathologic and molecular genetic findings.
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.
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.
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.
描述一例伴有临床病理及分子遗传学发现的严重角膜颗粒状营养不良病例。
采用分子遗传学方法分析一名患有角膜颗粒状营养不良的53岁男性患者及其未患病家庭成员的DNA。描述了穿透性角膜移植标本的临床特征、组织病理学和免疫组化结果。
组织病理学和分子遗传学结果证实了诊断。描述了一种新的基因多态性。组织病理学证据支持所描述的营养不良起源于上皮的假设。
在没有纯合突变状态证据或新突变的情况下，角膜颗粒状营养不良可能会有严重病程。分子遗传学分析在该患者中发现了一种新的多态性。组织病理学结果支持角膜颗粒状沉积物起源于上皮的假设。光动力角膜切削术和穿透性角膜移植术可能改善视力，但不能预防疾病复发。
