A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases  

作　　者：Hong-Dou Luo Shao-Nan Pei Ai-Jia Wang Xue-Qing Yu Hai-Jian Hu Ling Zeng Fei-Fei Wang Ming Jin Xu Zhang 

机构地区：[1]Affiliated Eye Hospital of Nanchang University,Jiangxi Research Institute of Ophthalmology&Visual Science/Jiangxi Provincial Key Laboratory for Ophthalmology,Nanchang 330006,Jiangxi Province,China

出　　处：《International Journal of Ophthalmology(English edition)》2023年第12期1962-1970,共9页国际眼科杂志（英文版）

基　　金：Supported by the National Natural Science Foundation of China(No.81271425,No.81860170);the Natural Science Foundation of Jiangxi Province(No.20181ACG70010).

摘　　要：AIM:To characterize the ophthalmic clinical phenotype of a family with retinitis pigmentosa(RP)and closed-angle glaucoma and to detect pathogenic genes and mutation sites causing RP in this family.METHODS:Ophthalmic clinic performance was examined in detail in 8 enrolled family members.Genomic DNA was extracted from the peripheral blood of 4 family members for whole-exome sequencing(WES)to select potential genetic mutations whose structures were identified by bioinformatics analysis.Then,Sanger sequencing was used in 12 family members and control group members to validate and confirm the disease-causing mutation loci,and we analyzed the genotype-phenotype relationships.RESULTS:The known c.512C>T(p.P171L)mutation in the rhodopsin(RHO)gene was only found in afflicted family members and was confirmed by WES and Sanger sequencing as the pathogenic mutation in this family.In addition to being diagnosed with RP,family member III:4 was found to have bilateral closed-angle glaucoma,high myopia,and concurrent cataracts,and family members II:2 and II:4 had pathological changes of anterior chamber angle narrowing.Family members IV:3 and IV:4 were found to have retinoschisis.CONCLUSION:Glaucoma and related pathological changes,such as retinoschisis,in family members are preliminarily considered RP complications caused by RHO mutation.

关 键 词：retinitis pigmentosa GLAUCOMA wholeexome sequencing RHO 

分 类 号：R774.1[医药卫生—眼科]