New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy

AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy.Targeted sequence capture array technique was used to screen potential pathologic variants.Polymerase chain reaction and Sanger sequencing were used to confirm the screening results.RESULTS:Fundus examination showed round macular lesions appeared in both eyes.Optical coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right eye.Fundus autofluorescence showed patchy hyper-autofluorescence in the macula.Visual field examination indicates central defects in both eyes.Electroretinogram(ERG)and multifocal ERG showed no obvious abnormalities.Fundus fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left eye.We found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous variants.Both variants are likely pathogenic according to the ACMG criteria.Multimodal imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal disorders.CONCLUSION:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy.

应用新一代AS-OCT观察高度近视白内障术后人工晶状体与后囊膜贴附的研究

目的:利用新一代眼前节OCT(AS-OCT)定量检测和分析高度近视长眼轴患者白内障术后人工晶状体与后囊膜贴附情况。方法:采用回顾性病例观察研究设计。纳入2019-10/12于深圳市眼科医院接受晶状体囊外摘除,经超声乳化吸出联合人工晶状体植入术的白内障患者60例60眼,根据眼轴长度(axial length,AL)分为两组:高度近视长眼轴组(AL>26.00mm)和正常眼轴组(AL:22.00~24.5mm)各30例30眼。分别于术后1、7、30d用AS-OCT测量两组白内障术后人工晶状体光学面与后囊膜之间围成的空间平面面积(AREAP)和未贴附残留后囊膜的边长。采用Kaplan-Meier生存分析法分析两组术后不同时间点的人工晶状体与后囊膜贴附率,Log-Rank检验法比较贴附率。结果:正常眼轴组术后1、7、30d的AREAP分别为0.81±0.37、0.33±0.19、0.14±0.06mm2,未贴附后囊膜边长分别为7.93±3.03、3.95±2.44、1.26±0.08mm,人工晶状体光学面与后囊膜贴附率分别为33%、67%、83%;高度近视长眼轴组术后1、7、30d的AREAP分别为3.29±0.43、1.54±0.66、0.62±0.28mm2,未贴附后囊膜的边长分别为13.56±4.02、8.13±3.90、3.78±2.51mm,人工晶状体光学面与后囊膜贴附率分别为0、7%、23%。两组术后各时间点AREAP、未贴附后囊膜边长、人工晶状体光学面与后囊膜贴附率均有差异(P<0.05)。结论:高度近视长眼轴患者白内障术后人工晶状体与后囊膜之间残留更大的空间,贴附需要更长时间。新一代AS-OCT可以清晰地显示晶状体后囊膜的影像,有望成为研究晶状体相关疾病的有效检查设备。

基于SD-OCT建立新的前膜分级法评估IMEM对年龄相关性白内障患者术后视功能的影响

目的:在单纯白内障术前,根据频域光学相干断层扫描技术(SD-OCT)显示年龄相关性白内障合并特发性黄斑前膜(IMEM)的患眼黄斑中心凹内部精细结构的紊乱程度建立新的IMEM分级法,评估其用于预测年龄相关性白内障患者的视功能预后的价值。方法:选取2017-10/2018-11在暨南大学附属深圳市眼科医院因年龄相关性白内障单纯行超声乳化白内障摘除联合人工晶状体植入术,术前眼底检查发现合并IMEM者64例80眼,根据SD-OCT显示的IMEM对黄斑中心凹内部精细结构的破坏程度将IMEM分为4级。对合并各级IMEM的患者术前、术后3mo的最佳矫正视力(BCVA,LogMAR)、平均视敏度(MS)、黄斑中心凹厚度(CMT)、黄斑前膜进展率进行对比分析。结果:在SD-OCT图像上,随着合并的IMEM分级的增高,前膜越明显,患者的黄斑中心凹凹部丢失和内部结构紊乱越严重。白内障术前及术后3mo的患眼BCVA随着所合并的IMEM分级升高而增加(F=37.72、26.43,均P<0.001)。白内障术前及术后3mo的患眼MS随着所合并的IMEM分级升高而降低(F=43.77、28.96,均P<0.001)。术后3mo CMT的改变和黄斑前膜进展率并不一致,合并各级IMEM的患眼CMT与术前均无差异(P>0.05),但黄斑前膜进展率呈显著上升趋势(χ2趋势=12.59,P<0.001)。结论:借助于SD-OCT对年龄相关性白内障合并的IMEM进行新的精细分级,可以更精准地预测该类患者单纯行白内障手术术后的视功能恢复情况。