黄斑中心凹发育不全一家系9例  

Nine foveal hypoplasia patients in a family

作　　者：崔婷婷 李志 Cui Tingting;Li Zhi(Department of Ophthalmology,Qilu Hospital(Qingdao),Cheeloo College of Medicine,Shandong University,Qingdao 266035,China)

机构地区：[1]山东大学齐鲁医院(青岛)眼科,青岛266035

出　　处：《中华眼底病杂志》2023年第7期565-568,共4页Chinese Journal of Ocular Fundus Diseases

摘　　要：目的观察黄斑中心凹发育不全(FVH)一家系的临床特征。方法回顾性临床研究。2018年8月于山东大学齐鲁医院(青岛)眼科检查确诊的FVH一家系9例纳入研究。详细询问先证者病史并行最佳矫正视力(BCVA)、验光、眼底彩色照相、光相干断层扫描(OCT)、OCT血管成像(OCTA)检查。采集先证者及其父母、家系成员Ⅴ7的外周静脉血提取DNA,行基因检测。结果先证者女,4岁。双眼BCVA 0.4。OCT检查,双眼均无黄斑中心凹、无外核层增宽和光感受器外节段延长,均有内层视网膜在黄斑区的连续。先证者母亲,32岁。双眼眼底均未见黄斑中心凹反光。OCT、OCTA检查,双眼均未见黄斑中心凹和中心凹无血管区。先证者及其母亲均为双眼FVH,Thomas分级4级。其余7例患者均无黄斑中心凹,Thomas分级3级或4级。先证者全基因组检测未发现有意义的致病基因及突变位点,且未检测到与患者临床表型相关的拷贝数变异或染色体异常。先证者接受弱视治疗7个月后,右眼、左眼BCVA分别提高至0.5、0.6;随访2年后,BCVA未再提高。结论该FVH家系9例患者均无黄斑中心凹,OCT图像表现相似,视力受不同程度影响;早期弱视训练,有助于患儿视力提高。Objective To observe the clinical features of nine foveal hypoplasia(FVH)patients in a family.Methods A retrospective clinical study.In August 2018,nine patients with FVH from a family diagnosed in Qilu Hospital of Shandong University(Qingdao)were included in this study.Detailed medical history of the proband was collected.Best corrected visual acuity(BCVA),slit-lamp,cycloplegic refraction,fundus color photography,optical coherence tomography(OCT)and OCT angiography(OCTA)were performed on the proband.The peripheral venous blood of V7(family member),the proband and the proband's parents were collected for DNA extraction,and gene detection was performed.Results The proband,a four-year-old girl,had poor vision with BCVA of 0.4 in both eyes.OCT showed absence of foveal pit,absence of outer segment lengthening,absence of outer nuclear layer widening and incursion of inner retinal layers.The proband's mother was 32 years old,and macular foveal reflection was not observed in her eyes.OCT and OCTA examination showed no foveal pit and foveal avascular zone in both eyes.Both eyes of the proband and her mother were diagnosed with Thomas grade 4 FVH.The other seven patients also had no foveal pit,and could be categorized into Thomas grade 3 or 4.No significant pathogenic genes and mutation sites were detected in the proband through whole genome sequencing,and no copy number variation or chromosomal abnormality associated with the phenotype of the proband was detected.After seven months of amblyopia treatment,the proband's BCVA had improved to 0.5 in the right eye and 0.6 in the left eye,while the BCVA did not change after 2 years of follow-up.Conclusion Nine FVH patients in this family had no foveal pit with similar OCT images,and their visual acuity was affected from lightly to severely.Early amblyopia training is helpful to improve the visual acuity of child patients.

关 键 词：黄斑中心凹发育不全 体层摄影术 光学相干 黄斑中心凹无血管区 

分 类 号：R774.5[医药卫生—眼科]