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
世界英语背景下本族语标准不断受到挑战,一线教学面临诸多迷惑。English After RP:Standard British Pronunciation Today(Lindsey 2019)一书指出RP在英国已经死亡,这要求外语教学界回应语音教学中的两个突出问题:应采用何种语音标准来...世界英语背景下本族语标准不断受到挑战,一线教学面临诸多迷惑。English After RP:Standard British Pronunciation Today(Lindsey 2019)一书指出RP在英国已经死亡,这要求外语教学界回应语音教学中的两个突出问题:应采用何种语音标准来教授?该标准对现有课程框架的教学内容及教学重点将产生怎样的影响?中国及世界英语教学理论与实践的研究表明,以传播中国,沟通世界为目的的中国外语教学,应该理性地选择世界范围内认可度最高的规范作为教授标准,并与时俱进,更新教学内容;从评价输出角度来说,应转变教学理念,聚焦信息交流的可理解度,将教学重点转向韵律。师生均需拓宽视野,培养世界胸怀,培养国际交流中对待地域及社会变体的积极的语言态度。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.
基金National Natural Science Foundation of China(82274341)Scientific Research Project of Traditional Chinese Medicine of Hunan Province(B2023041)+1 种基金Qihuang Scholars Support Project of PENG Qinghuathe Scientific Research Project of Hunan Provincial Department of Education(21B0391)。
文摘世界英语背景下本族语标准不断受到挑战,一线教学面临诸多迷惑。English After RP:Standard British Pronunciation Today(Lindsey 2019)一书指出RP在英国已经死亡,这要求外语教学界回应语音教学中的两个突出问题:应采用何种语音标准来教授?该标准对现有课程框架的教学内容及教学重点将产生怎样的影响?中国及世界英语教学理论与实践的研究表明,以传播中国,沟通世界为目的的中国外语教学,应该理性地选择世界范围内认可度最高的规范作为教授标准,并与时俱进,更新教学内容;从评价输出角度来说,应转变教学理念,聚焦信息交流的可理解度,将教学重点转向韵律。师生均需拓宽视野,培养世界胸怀,培养国际交流中对待地域及社会变体的积极的语言态度。
