Liskova Petra, Filipec Martin, Merjava Stanislava, Jirsova Katerina, Tuft Stephen J
Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General Teaching Hospital in Prague, Czech Republic.
Ophthalmic Genet. 2010 Dec;31(4):230-4. doi: 10.3109/13816810.2010.518577.
To describe the ocular features of 6 Czech and British patients with posterior polymorphous corneal dystrophy (PPCD) caused by mutations in the zinc finger E-box binding homeobox 1 gene (ZEB1).
Case note review of 4 individuals with p.E776fs mutation, one with p.Y719X and one with p.F375fs mutation within the ZEB1 gene.
Five individuals exhibited endothelial and Descemet membrane changes consistent with the diagnosis of PPCD. We concluded that one 70-year-old female who had a normal endothelium at both slit lamp and non-contact specular microscopy was a case of non-penetrance. The onset of disease was as early as 3 months after birth. One patient had irregular astigmatism with inferior corneal steepening on videokeratography, but without corneal thinning or other signs of keratoconus. Two others had corneal steepening >49D but with regular astigmatism. Three individuals underwent penetrating keratoplasty (PK) in 1 eye, with one patient treated for secondary glaucoma prior to the PK.
The phenotype associated with changes in the ZEB1 gene exhibits variable expression and incomplete penetrance and seems to have a low risk for secondary glaucoma or the need for keratoplasty compared to PPCD linked to 20p11.2. There is insufficient data for phenotype correlations with PPCD caused by other genes.
描述6例由锌指E盒结合同源框1基因（ZEB1）突变引起的后多形性角膜营养不良（PPCD）的捷克和英国患者的眼部特征。
对4例携带ZEB1基因p.E776fs突变、1例携带p.Y719X突变和1例携带p.F375fs突变的患者进行病例记录回顾。
5例患者表现出与PPCD诊断相符的内皮和后弹力层改变。我们得出结论，1例70岁女性在裂隙灯和非接触式角膜内皮显微镜检查下内皮均正常，属于非外显病例。疾病最早在出生后3个月发病。1例患者在角膜地形图检查中表现为不规则散光伴角膜下部陡峭，但无角膜变薄或圆锥角膜的其他体征。另外2例患者角膜陡峭度>49D，但为规则散光。3例患者1眼接受了穿透性角膜移植术（PK），其中1例患者在PK术前接受了继发性青光眼治疗。
与ZEB1基因改变相关的表型表现出可变表达和不完全外显，与20p11.2相关的PPCD相比，继发性青光眼或角膜移植需求的风险似乎较低。关于其他基因引起的PPCD的表型相关性的数据不足。
