Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance.
Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance.
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DOI：
10.1155/2015/703418
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Mularoni A
中科院分区：
文献类型：
--
作者：
Mazzotta C;Traversi C;Baiocchi S;Barabino S;Mularoni A
在意大利II型颗粒状角膜营养不良（GCD 2）家族中报告了临床、仪器和遗传学发现，在女性后代中最初出现不寻常的I型颗粒状角膜营养不良（GCD 1）表型谱。裂隙灯检查显示了典型的表型特征的GCD 2的母亲和GCD 1的表型外观的两个女儿。尽管表型发病不同，但遗传诊断检测显示TGFB-I基因存在突变，在两种情况下都是典型的GCD 2，不包括GCD 1。临床上怀疑患有角膜营养不良的患者需要进行基因确认测试以确定诊断。基因检测有助于发现区分不同表型谱的特异性突变，并具有相关的诊断和预后意义。这项研究表明，患者中经遗传学证实的颗粒状角膜营养不良的表型谱可能会随着时间的推移而发生变化。由于R124 H突变也被描述在LASIK手术前的临床无症状个体中，然后发生显著的沉积，这表明这种特定的突变和表型可能对中央角膜创伤敏感，沉淀或修改，因此建议在LASIK手术前仔细进行排除角膜营养不良的家族病史和特定的术前遗传学检查。
Clinical, instrumental, and genetic findings are reported in Italian families with Type II Granular Corneal Dystrophies (GCD2) presenting an initial unusual presentation of a Granular Corneal Dystrophy Type I (GCD1) phenotypic spectrum in female descendants. Slit-lamp examinations showed the typical phenotypic features of GCD2 in both mothers and a phenotypic appearance of GCD1 in both daughters. Despite the different phenotypic onset, the genetic diagnostic testing revealed the presence of a mutation in the TGFB-I gene, typical of GCD2 in both cases, excluding GCD1. Patients who were clinically suspected of corneal dystrophy need a genetic confirmatory testing for certain diagnosis. Genetic test may help to find the specific mutation distinguishing between different phenotypic spectra with relative diagnostic and prognostic implications. The study demonstrates that the phenotypic spectrum of genetically confirmed granular corneal dystrophies in patients may change over time. Since the R124H mutation has also been described in clinically asymptomatic individuals prior to LASIK, who then develop dramatic deposition, suggesting that this particular mutation and phenotype may be sensitive to, precipitated, or modified by central cornea trauma, a careful familial anamnesis excluding cornel dystrophies and specific preoperative genetic test are recommended prior to LASIK.
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影响因子：
30.8
作者：
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通讯作者：
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