Shen Jianqin, Chixin Du, Gu Yangshun
From the Department of Ophthalmology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, P.R. China.
Medicine (Baltimore). 2015 Jun;94(23):e921. doi: 10.1097/MD.0000000000000921.
Posterior polymorphous corneal dystrophy (PPCD) is an extremely rare, bilateral, and inherited disorder, which affects the corneal endothelium and Descemet's membrane. Few PPCD cases in Chinese patients have been published so far. As far as we know, there are few studies which focused on the associations between PPCD and high myopia either. Here we report a rare case of coexistence of posterior polymorphous corneal dystrophy, resultant high myopia and with-the-rule developing corneal astigmatism in a young Chinese boy. A 6-year-old boy was first referred to our department 7 years ago, complaining of bilateral poor vision. Examinations of both eyes including ophthalmologic examination, cycloplegic refraction examination, confocal microscopy findings, and corneal topography were performed. Bilateral small aggregates of vesicular lesions and patchy hyperreflectivity were observed at the level of the Descemet's membrane on confocal microscopy, which is consistent with typical PPCD. Optometry and corneal topography examinations showed a resultant high myopia. Ocular examinations were performed annually to follow up with the patient in the past 7 years. The corneal lesions remained stable whereas an axial elongation and a sharp increase in both spherical and cylindrical equivalent power were observed. Close follow-ups including thorough scrutiny of the endothelium and systematic ocular ancillary examinations are essential for patients with PPCD. The pathological coexistence of PPCD and high myopia in our case is possibly due to a shared etiological pathway or genetic background. Advanced genetic analysis on similar cases is expected if more samples can be provided.
后极性多形性角膜营养不良(PPCD)是一种极其罕见的、双侧性的遗传性疾病,它会影响角膜内皮和后弹力层。到目前为止,中国患者中很少有PPCD病例被报道。据我们所知,也很少有研究关注PPCD与高度近视之间的关联。在此,我们报告一例罕见病例,一名中国年轻男孩同时患有后极性多形性角膜营养不良、由此导致的高度近视以及顺规性发展的角膜散光。一名6岁男孩于7年前首次转诊至我科,主诉双眼视力差。对双眼进行了包括眼科检查、散瞳验光检查、共焦显微镜检查结果以及角膜地形图检查在内的各项检查。共焦显微镜检查显示后弹力层水平存在双侧小水泡状病变聚集和片状高反射性,这与典型的PPCD一致。验光和角膜地形图检查显示存在高度近视。在过去7年中,每年都对该患者进行眼科检查以进行随访。角膜病变保持稳定,然而观察到眼轴延长以及球镜和柱镜等效屈光度急剧增加。对于PPCD患者,密切随访包括对内皮的全面检查和系统的眼部辅助检查至关重要。我们病例中PPCD与高度近视的病理共存可能是由于共同的病因途径或遗传背景。如果能提供更多样本,有望对类似病例进行进一步的基因分析。