黄斑中心凹发育不良六例

Macular foveal hypoplasia:clinical analysis of six cases with a literature review

目的本研究旨在通过病例分析及文献复习,探讨黄斑中心凹发育不良的临床特征。方法对6名临床诊断为黄斑中心凹发育不良的患儿进行回顾性分析,总结并讨论该疾病的临床特征。结果6名患儿均为双眼病变,年龄6~12岁,平均年龄为(9.0±2.76)岁。12眼均存在+1.00D及以上的顺规散光,10眼最佳矫正视力(BCVA)达到0.3及以上。6名患儿的合并症包括白化症、屈光不正、斜视、先天性虹膜缺损及眼球震颤等。其中1名患儿行基因检测,检测到GPR143基因的变异。在高分辨率光学相干断层扫描(HD-OCT)分析中,所有患儿均存在黄斑中心凹结构变浅或消失,伴内核层侵入黄斑中心凹。结论黄斑中心凹发育不良为一种解剖结构的变异,多双眼发病,可伴或不伴有视力及屈光异常。

Objective The purpose of this study was to explore the clinical features associated with macular fovea hypoplasia through clinical analysis of six cases with a literature review.Methods A retrospective chart study was performed on six children clinically diagnosed with macular fovea hypoplasia to evaluate the clinical features associated with this condition.Results All the six patients had bilateral fovea hypoplasia.The age of the patients at examination ranged from 6 to 12 years,with an average age of(9.0±2.76)years.All the 12 eyes had+1.00D or more astigmatism,with best corrected visual acuity(BCVA)of 0.3 or above in 10 eyes.The patients involved had comorbidities such as albinism,ametropia,strabismus,congenital iris defect,and nystagmus.One of the patients underwent genetic testing,and the result showed a mutation in the GPR143 gene.In high-definition optical coherence tomography analysis,the foveal structure was absent or shallower in all patients,along with an incursion of inner retinal layers at the center of the foveal.Conclusion Foveal hypoplasia is an anatomic variation that occurs often in both eyes with or without visual and refractive abnormalities.