Congenital microcoria (MCOR) is an eye anomaly characterized by a pupil with diameter below 2 mm, and is caused by underdevelopment or absence of the dilator muscle of the pupil. Two types have been described: a recessive, syndromic (Pierson syndrome OMIM 609049) and a dominant, isolated form (MCOR syndrome OMIM 156600). Fares-Taie and colleagues described inherited microdeletions in chromosome band 13q32.1 segregating with dominant microcoria in several families. The GPR180 gene is located within the smallest commonly deleted region and encodes a G protein-coupled receptor involved in smooth muscle cells growth. We here describe a patient with isolated, non-syndromic MCOR. The patient presented with a blue iris and small pupils, non-reactive to cycloplegic agents. Her mother had a milder ocular phenotype, namely a blue iris with hypoplastic crypts and mild myopia. We present a detailed clinical examination and follow up. DNA from the index patient was analyzed for the presence of chromosomal imbalances using molecular karyotyping. The genetic test revealed a small duplication of chromosome band 13q32.1. The duplication affected a 289 kb region, encompassing 11 genes including GPR180. Interestingly, the patient displays only MCOR in contrast to patients with the reciprocal deletion who present with MCOR and iridocorneal angle dysgenesis. This genetic anomaly was inherited from the mother who carries the duplication in mosaic form, which should be considered when offering genetic counselling. In summary, we describe the first 13q32.1 duplication encompassing GPR180 associated with MCOR.

先天性小co（MCOR）是一种眼睛异常，其特征是瞳孔直径小于2 mm，是由瞳孔扩张肌发育不足或缺乏而引起的。已经描述了两种类型：隐性综合征（Pierson综合征OMIM 609049）和显性孤立形式（MCOR综合征OMIM 156600）。Fares-Taie及其同事描述了13q32.1染色体带中的遗传微缺失，与几个科中的显性微丝ria分离。该GPR180该基因位于最小的通常缺失的区域内，并编码参与平滑肌细胞生长的G蛋白偶联受体。我们在这里描述患有孤立的，非综合征性MCOR的患者。该患者虹膜呈蓝色，瞳孔小，对睫状肌麻痹药无反应。她的母亲的眼表型较轻，即蓝色虹膜伴发育不全的隐窝和轻度近视。我们提出详细的临床检查和随访。使用分子核型分析法分析了来自索引患者的DNA是否存在染色体失衡。基因测试显示染色体13q32.1有少量重复。重复影响了一个289 kb的区域，包括11个基因，包括GPR180。有趣的是，与具有MCOR和虹膜角膜发育不全的相互缺失的患者相比，该患者仅显示MCOR。这种遗传异常是从母亲那里继承的，该母亲携带镶嵌形式的重复，在提供遗传咨询时应予以考虑。总之，我们描述了包含与MCOR相关的GPR180的第一个13q32.1复制。