Dudakova Lubica, Skalicka Pavlina, Davidson Alice E, Liskova Petra
Research Unit for Rare Diseases First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic First Faculty of Medicine, Charles University, Prague, Czech Republic.
Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Cornea. 2019 Jun;38(6):758-760. doi: 10.1097/ICO.0000000000001930.
To report a simultaneous occurrence of 2 rare corneal dystrophies.
A 30-year-old man with a family history of posterior polymorphous corneal dystrophy type 3 (PPCD3) was invited for ophthalmic examination. Sanger sequencing of the coding regions and intron/exon boundaries of disease-associated genes, ZEB1 and UBIAD1, was performed.
The clinical findings suggested co-occurrence of PPCD3 and Schnyder corneal dystrophy in the proband. This dual diagnosis was supported by genetic findings. He was identified to carry a previously reported heterozygous nonsense mutation in ZEB1: c.2157C>G; p.(Tyr719*), and a novel heterozygous missense mutation in UBIAD1: c.569T>C; p.(Ile190Thr). The mother of the proband only carried c.2157C>G in ZEB1, and slit-lamp examination of her corneas showed endothelial lesions characteristic of PPCD3. The sister of the proband carried c.569T>C in UBIAD1 and had corneal crystal deposition in her anterior stroma consistent with the diagnosis of Schnyder corneal dystrophy.
This case illustrates the coincidental occurrence of 2 rare and genetically distinct corneal dystrophies in a single patient. Furthermore, it highlights the need to perform comprehensive phenotyping in combination with appropriate genetic diagnostic testing to achieve an accurate diagnosis.
报告2种罕见角膜营养不良的同时发生情况。
邀请一名有3型多形性后极型角膜营养不良（PPCD3）家族史的30岁男性进行眼科检查。对疾病相关基因ZEB1和UBIAD1的编码区以及内含子/外显子边界进行桑格测序。
临床检查结果提示先证者同时患有PPCD3和施奈德角膜营养不良。这一双重诊断得到了基因检测结果的支持。他被鉴定出携带ZEB1基因中一个先前报道的杂合无义突变：c.2157C>G；p.(Tyr719*)，以及UBIAD1基因中一个新的杂合错义突变：c.569T>C；p.(Ile190Thr)。先证者的母亲仅携带ZEB1基因中的c.2157C>G，裂隙灯检查显示其角膜有PPCD3特征性的内皮病变。先证者的姐姐携带UBIAD1基因中的c.569T>C，其角膜前基质有晶体沉积，符合施奈德角膜营养不良的诊断。
本病例说明了2种罕见且基因不同的角膜营养不良在单一患者中的同时发生。此外，它强调了需要结合适当的基因诊断检测进行全面的表型分析以实现准确诊断。
