Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion

Lenk Janine; Porrmann Joseph; Smitka Martin; Eger Ines; Schroeck Evelin; Hackmann Karl; Herber Robert; Raiskup Frederik; Tzschach Andreas

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Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion

机译：12季度患者的后神经角膜营养不良缺失

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Posterior amorphous corneal dystrophy (PACD) (OMIM 612868) is a rare autosomal dominant disorder characterized by partial or complete posterior lamellar corneal opacification, decreased corneal thickness and flattening of the corneal curvature. PACD is associated with heterozygous deletions in chromosome band 12q21.33 harboring DCN, KERA, LUM, and EPYC which encode small leucine-rich proteoglycans.

机译：后神经角膜营养不良（PACD）（OMIM 612868）是一种稀有的常染色体显性障碍，其特征是部分或完全的后层状膜膜渗透，降低角膜厚度和角膜曲率的平坦化。 PACD与患有DCN，Kera，Lum和EPYC的染色体带12Q21.33中的杂合缺失相关。

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来源
《Ophthalmic genetics》 |2018年第5期|共3页
作者
Lenk Janine; Porrmann Joseph; Smitka Martin; Eger Ines; Schroeck Evelin; Hackmann Karl; Herber Robert; Raiskup Frederik; Tzschach Andreas;
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作者单位

Univ Klinikum Carl Gustav Carus Dept Ophthalmol Dresden Germany;

Tech Univ Dresden Inst Klin Genet Dresden Germany;

Univ Klinikum Carl Gustav Carus Childrens Hosp Dresden Germany;

Childrens Hosp Stadt Klinikum Gorlitz Gorlitz Germany;

Tech Univ Dresden Inst Klin Genet Dresden Germany;

Tech Univ Dresden Inst Klin Genet Dresden Germany;

Univ Klinikum Carl Gustav Carus Dept Ophthalmol Dresden Germany;

Univ Klinikum Carl Gustav Carus Dept Ophthalmol Dresden Germany;

Tech Univ Dresden Inst Klin Genet Dresden Germany;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
关键词
12q21.33 deletion; balanced insertional translocation; DCN; EPYC; KERA; LUM; posterior amorphous corneal dystrophy;

机译：12Q21.33删除;平衡插入易位;DCN;EPYC;KERA;LUM;后神经角膜营养不良;
入库时间 2022-08-20 05:21:01

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专利

1. Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion [J] . Lenk Janine, Porrmann Joseph, Smitka Martin, Ophthalmic genetics . 2018,第5期

机译：12季度患者的后神经角膜营养不良缺失
2. Confirmation and Refinement of the Heterozygous Deletion of the Small Leucine-rich Proteoglycans Associated with Posterior Amorphous Corneal Dystrophy [J] . Aldave Anthony, Cervantes Aleck, Gee Katherine, Investigative ophthalmology & visual science . 2018,第9期

机译：确认和改进与后神经角膜营养不良相关的小亮氨酸富含蛋白多糖的杂合缺失
3. Confirmation and Refinement of the Heterozygous Deletion of the Small Leucine-rich Proteoglycans Associated with Posterior Amorphous Corneal Dystrophy [J] . Aldave Anthony, Cervantes Aleck, Gee Katherine, Investigative ophthalmology & visual science . 2018,第9期

机译：确认和改进与后神经角膜营养不良相关的小亮氨酸富含蛋白多糖的杂合缺失
4. Automatic determination of anterior and posterior corneal limbi from OCT images, based on corneal shape analysis [C] . Marta Skrok, David Alonso-Caneiro, Damian Siedlecki Conference on Optical Coherence Imaging Techniques and Imaging in Scattering Media . 2019

机译：基于OCT图像的自动测定OCT图像，基于角膜形状分析
5. The Changes of Posterior Corneal Curvature, Topographic Corneal Thickness and Corneal Biomechanical Properties from Overnight Orthokerotology Lens Wear and Recoveries of These Parameters. [D] . Chen, Davie. 2011

机译：过夜角膜塑形镜配戴后角膜曲率，角膜地形图厚度和角膜生物力学特性的变化以及这些参数的恢复。
6. Linkage of Posterior Amorphous Corneal Dystrophy to Chromosome 12q21.33 and Exclusion of Coding Region Mutations in KERA LUM DCN and EPYC [O] . Anthony J. Aldave, George O. D. Rosenwasser, Vivek S. Yellore, -1

机译：后部无定形角膜营养不良与染色体12q21.33的联系并排除了KERALUMDCN和EPYC中的编码区突变
7. Linkage of Posterior Amorphous Corneal Dystrophy to Chromosome 12q21.33 and Exclusion of Coding Region Mutations in KERA, LUM, DCN, and EPYC [O] . Aldave, Anthony J., Rosenwasser, George O. D., Yellore, Vivek S., 2010

机译：后部无定形角膜营养不良与染色体12q21.33的联系，并排除了KERA，LUM，DCN和EPYC中的编码区突变

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion

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