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 m...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.展开更多
患者女,38岁。因双眼不明原因中心视力缓慢进展性下降8年加重1年,于2022年8月24日到河北省邯郸市眼科医院(邯郸市第三医院)就诊。既往身体健康,否认其他全身系统性疾病史。眼科检查:右眼、左眼最佳矫正视力(BCVA)分别为0.15、0.12。右...患者女,38岁。因双眼不明原因中心视力缓慢进展性下降8年加重1年,于2022年8月24日到河北省邯郸市眼科医院(邯郸市第三医院)就诊。既往身体健康,否认其他全身系统性疾病史。眼科检查:右眼、左眼最佳矫正视力(BCVA)分别为0.15、0.12。右眼、左眼眼压分别为14、15 mm Hg(1 mm Hg=0.133 kPa)。双眼眼前节检查未见明显异常。近红外成像(NIR)检查,双眼黄斑中心区反射信号弱(图1A,1B)。蓝光自发荧光检查,黄斑区可见强自发荧光(图1C,1D)。光相干断层扫描(OCT)检查,双眼黄斑区椭圆体带(EZ)、嵌合体带(IZ)反射信号减弱、紊乱(图1E,1F)。OCT血管成像(OCTA)定量分析发现,浅层毛细血管丛(SCP)和深层毛细血管丛(DCP)的血流密度均降低(图1G,1H)。Humphrey视野检查,双眼视野中心暗点(图1I,1J)。多焦点视网膜电图(ERG)检查,双眼黄斑区中心凹尖峰振幅密度下降(图1K,1L)。闪光视觉诱发电位检查,双眼各波潜伏期稍有延长(图1M,1N)。征求患者及父亲和姑姑同意后行全外显子基因检测。结果显示,患者携带RP1L1基因错义突变及NM_178857:exon4:c.2880G>T:(p.Trp960Cys)突变点位。其父亲和姑姑均无基因变异。诊断:隐匿性黄斑营养不良(OMD)(图2)。对患者进行随访观察,2年后患者于我院复查,OCT检查,双眼中央视网膜厚度变薄(图3A,3B)。展开更多
基金Supported by Shenzhen Science and Technology Program,Shenzhen,China(No.JCYJ20200109145001814,No.SGDX20211123120001001)the National Natural Science Foundation of China(No.81970790)Sanming Project of Medicine in Shenzhen(No.SZSM202011015).
文摘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.
文摘患者女,38岁。因双眼不明原因中心视力缓慢进展性下降8年加重1年,于2022年8月24日到河北省邯郸市眼科医院(邯郸市第三医院)就诊。既往身体健康,否认其他全身系统性疾病史。眼科检查:右眼、左眼最佳矫正视力(BCVA)分别为0.15、0.12。右眼、左眼眼压分别为14、15 mm Hg(1 mm Hg=0.133 kPa)。双眼眼前节检查未见明显异常。近红外成像(NIR)检查,双眼黄斑中心区反射信号弱(图1A,1B)。蓝光自发荧光检查,黄斑区可见强自发荧光(图1C,1D)。光相干断层扫描(OCT)检查,双眼黄斑区椭圆体带(EZ)、嵌合体带(IZ)反射信号减弱、紊乱(图1E,1F)。OCT血管成像(OCTA)定量分析发现,浅层毛细血管丛(SCP)和深层毛细血管丛(DCP)的血流密度均降低(图1G,1H)。Humphrey视野检查,双眼视野中心暗点(图1I,1J)。多焦点视网膜电图(ERG)检查,双眼黄斑区中心凹尖峰振幅密度下降(图1K,1L)。闪光视觉诱发电位检查,双眼各波潜伏期稍有延长(图1M,1N)。征求患者及父亲和姑姑同意后行全外显子基因检测。结果显示,患者携带RP1L1基因错义突变及NM_178857:exon4:c.2880G>T:(p.Trp960Cys)突变点位。其父亲和姑姑均无基因变异。诊断:隐匿性黄斑营养不良(OMD)(图2)。对患者进行随访观察,2年后患者于我院复查,OCT检查,双眼中央视网膜厚度变薄(图3A,3B)。
