New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy  

作　　者：Wen-Chao Cao Qing-Shan Chen Run Gan Tao Huang Xiao-He Yan 

机构地区：[1]The Second Clinical Medical College,Jinan University,Shenzhen 518040,Guangdong Province,China [2]Shenzhen Eye Hospital,Jinan University,Shenzhen Eye Institute,Shenzhen 518040,Guangdong Province,Chin

出　　处：《International Journal of Ophthalmology(English edition)》2024年第1期107-112,共6页国际眼科杂志（英文版）

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).

摘　　要：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.

关 键 词：MACULOPATHY RECESSIVE compound heterozygous variants RP1L1 

分 类 号：R774.63[医药卫生—眼科]