Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy.

Lisch W; Moller HU

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Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy.

机译：具有阿韦利诺角膜营养不良特征的患者的晶状体角膜营养不良（TGFBI中的R124C突变）的基因型。

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The presented case of Edelstein et al shows a clinical phenotype very different than lattice corneal dystrophy type I and granular corneal dystrophy type II. The left eye demonstrates a larger pannus-like alteration in projection to the superior border of the pupil combined with superficial radial vessels from the above and nasal limbus in direction to the pannus (Fig. 1A). hi the lower cornea, there are radial and looped Lines that remind us of deeper ghost vessels than true lattice lines (Fig. IB). The histological examination after deep anterior lamellar keratoplasty discloses hyaline and amyloid deposits. The DNA analysis results- in a R124C mutation in the TGFBI gene.

机译：Edelstein等人提出的病例显示出的临床表型与I型角膜营养不良和II型颗粒性角膜营养不良非常不同。左眼在向瞳孔上缘的投影中显示出较大的pan样样改变，并结合了从上方和鼻缘到表pan的方向上的浅radial骨血管（图1A）。在角膜下部，有放射状和环状的线使我们想起比真正的格子线更深的幻影血管（图IB）。深层前板角膜移植术后的组织学检查发现透明质和淀粉样沉积物。 DNA分析导致TGFBI基因中的R124C突变。

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《Cornea》 |2011年第8期|共2页
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Lisch W; Moller HU;
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中图分类眼科学;
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1. Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. [J] . Lisch W, Moller HU Cornea . 2011,第8期

机译：具有阿韦利诺角膜营养不良特征的患者的晶状体角膜营养不良（TGFBI中的R124C突变）的基因型。
2. Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3) [J] . Pablo RomeroMauricio MoragaLuisa Herrera Molecular vision . 2010,第2010期

机译：TGFBI（BIGH3）的417C> T（R124C）和1762A> G（H572R）突变的患者的I型角膜营养不良的不同表型
3. Different phenotypes of lattice corneal dystrophy type I in patients with 417CT (R124C) and 1762AG (H572R) mutations in TGFBI (BIGH3) [J] . Herrera Luisa, Moraga Mauricio, Romero Pablo Molecular vision . 2010,第2010期

机译：TGFBI（BIGH3）的417C> T（R124C）和1762A> G（H572R）突变的患者的I型角膜营养不良的不同表型
4. A Simple DNA Chip for Diagnosis of Most Common Corneal Dystrophies Caused by βigh3 Gene Mutations [C] . So Young Yoo, Tae-im Kim, Sang Yup Lee, Frontiers in the Convergence of Bioscience and Information Technologies . 2007

机译：一种简单的DNA芯片，用于诊断βigh3基因突变引起的最常见的角膜营销蛋白酶
5. Characterization of UBIAD1 and its role in Schnyder corneal dystrophy. [D] . Nickerson, Michael L. 2011

机译：UBIAD1的特征及其在施奈德角膜营养不良中的作用。
6. Different phenotypes of lattice corneal dystrophy type I in patients with 417CT (R124C) and 1762AG (H572R) mutations in TGFBI (BIGH3) [O] . Pablo Romero, Mauricio Moraga, Luisa Herrera 2010

机译：TGFBI（BIGH3）的417C T（R124C）和1762A G（H572R）突变的患者的I型角膜营养不良的不同表型
7. Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies [O] . Huo, Ya-nan, Yao, Yu-feng, Yu, Ping 2011

机译：中国阿韦利诺，晶格和黄斑角膜营养不良患者的TGFBI和CHST6基因致病性突变

Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy.

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