Nasser F, Mulahasanovic L, Alkhateeb M, Biskup S, Stingl K, Zrenner E
Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn Strasse 7, 72076, Tübingen, Germany.
Praxis for Human Genetics, Tübingen, Germany.
Doc Ophthalmol. 2019 Apr;138(2):153-160. doi: 10.1007/s10633-019-09675-w. Epub 2019 Feb 1.
To investigate a very rare case of hypotrichosis with cone-rod dystrophy caused by a P-cadherin CDH3 mutation.
A 16-year-old Syrian girl was examined at age 9 and 14 years with an ophthalmological examination, fundus imaging, OCT and electrophysiological recordings (ERG and PERG). A disease-targeted gene panel sequencing was performed.
Fundus images showed pigmentations at the posterior eye pole to the mid periphery, as well as vessel tortuosity. OCT images revealed a loss of the outer retinal segments and IS/OS in the central macula. The scotopic and photopic ERGs showed moderately reduced amplitudes at age 9 years that became severely reduced at age of 14 years. The PERG was undetectable at age 9 years. In color vision testing, protan-deutan confusion errors occurred. Gene panel analysis revealed one homozygous mutation in CDH3 (c.1508G>A; p.Arg503His).
This case shows that a CDH3 mutation besides macula dystrophy can cause widespread cone-rod dystrophy with hypotrichosis without any other pathology besides hypoplastic nails. This points to a common pathway of hair growth and photoreceptor development that can be disturbed by a CDH3 mutation (c.1508G>A; p.Arg503His) located in the EC4 repeat region of the gene.
研究一例由P-钙黏蛋白CDH3突变引起的毛发稀少伴视锥视杆营养不良的极为罕见的病例。
对一名16岁的叙利亚女孩在9岁和14岁时进行了眼科检查、眼底成像、光学相干断层扫描（OCT）和电生理记录（视网膜电图[ERG]和图形视网膜电图[PERG]）。进行了疾病靶向基因panel测序。
眼底图像显示后极部至中周部有色素沉着，以及血管迂曲。OCT图像显示中央黄斑区外层视网膜节段和内节/外节连接复合体（IS/OS）缺失。暗视和明视ERG在9岁时显示振幅中度降低，在14岁时严重降低。9岁时PERG检测不到。在色觉测试中，发生了红绿色觉混淆误差。基因panel分析显示CDH3存在一个纯合突变（c.1508G>A；p.Arg503His）。
该病例表明，除黄斑营养不良外，CDH3突变可导致广泛的视锥视杆营养不良伴毛发稀少，除指甲发育不全外无任何其他病变。这表明毛发的生长和光感受器的发育存在共同途径，该途径可能会被位于该基因EC4重复区域的CDH3突变（c.1508G>A；p.Arg503His）所干扰。
