Purpose: To analyze the clinical features of LRP5 gene mutation-related familial exudative vitreoretinopathy and explore the potential phenotype-genotype correlation on LRP5 gene. Methods: Eighty-seven familial exudative vitreoretinopathy (FEVR) families with LRP5 mutations were selected from 722 FEVR patients, which were divided into 2 groups, including 22 autosomal-recessive FEVR (ar-FEVR) families and 65 autosomal-dominant FEVR (ad-FEVR) families. Clinical and genetic data were retrospectively analyzed. The potential phenotype-genotype correlation was explored from the mutation type and inheritance pattern. Results: No significant difference between the LRP5 null mutation subgroup and the LRP5 missense mutation subgroup was observed in the proportion of FEVR stage and the ratio of ocular involvement. Instead, a significant difference between the LRP5 ar-FEVR subgroup and the LRP5 ad-FEVR subgroup was observed in the proportion of FEVR stage and the ratio of binocularly severe phenotype. The probands with LRP5 gene recessive mutation showed a higher incidence of severe phenotype. Moreover, the ratio of binocularly severe patients in ar-FEVR was nearly 3.5 times higher than that in ad-FEVR. Conclusion: The severity of phenotype was more likely to be related to the synergistic effect of the variants.
基金：
National Natural Science Foundation of China [82101147]
第一作者机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing, Peoples R China[2]Beijing Ophthalmol & Visual Sci Key Lab, Beijing, Peoples R China[3]Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Ophthalmol, Shanghai 200092, Peoples R China
共同第一作者：
通讯作者：
通讯机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing, Peoples R China[3]Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Ophthalmol, Shanghai 200092, Peoples R China
推荐引用方式(GB/T 7714)：
Chen Chunli,Zhang Xiang,Peng Xiaoyan,et al.LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION[J].RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES.2022,42(10):1958-1964.doi:10.1097/IAE.0000000000003543.
APA：
Chen, Chunli,Zhang, Xiang,Peng, Xiaoyan,Hu, Feng,Cheng, Yizhe&Zhao, Peiquan.(2022).LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION.RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES,42,(10)
MLA：
Chen, Chunli,et al."LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION".RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES 42..10(2022):1958-1964
