Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study

Authors: Tamás Fehér, Noémi Széll, István Nagy, Zoltán Maróti, Tibor Kalmár, Zoltán Sohajda, Mirella T. S. Barboni

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Subject Terms: Early onset high myopia, Retina, ARR3, Electroretinogram, Cone arrestin, Cone dysfunction, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/09ff4da96e67460f9ade801828ee55b8

Advances in the study of ARR3 in myopia

Authors: Yi-Ming Guo, Junhan Wei, Jiaqi Wang, Guoyun Zhang, Jiejing Bi, Lu Ye

Source: Frontiers in Cell and Developmental Biology, Vol 13 (2025)

Subject Terms: ARR3, early-onset high myopia, cone photoreceptor, x-chromosome inactivation (XCI), photosensitive retinal ganglion cells (pRGCs), Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2025.1551135/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/afab3ad45cf245ecba0548001a45ff17

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

Authors: Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

Subject Terms: Coffin-Siris syndrome 1, ARID1B gene, Early-onset high myopia, Genotype, Phenotype, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/873e650979f94a20a759b4433e8b0011

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

Authors: Feiyin Zi, Zhen Li, Wanyu Cheng, Xiaoyu Huang, Xunlun Sheng, Weining Rong

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-12 (2023)

Subject Terms: Early-onset high myopia, X-linked recessive inheritance, Genetic variant, Clinical phenotype, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/ae834ef3955f40f093cfffbca5163cd5

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

Authors: Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong, Xunlun Sheng

Source: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)

Subject Terms: EP300 gene, Early onset high myopia, Phenotype, Rubinstein-Taybi syndrome 2, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/4233d8c88e5f4a66b53509fa79f87fa6

Differential methylation of microRNA encoding genes may contribute to high myopia

Authors: Joanna Swierkowska, Sangeetha Vishweswaraiah, Malgorzata Mrugacz, Uppala Radhakrishna, Marzena Gajecka

Source: Frontiers in Genetics, Vol 13 (2023)

Subject Terms: DNA methylation, epigenetic changes, childhood myopia, early-onset high myopia, microRNA target genes, miRNA encoding genes, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1089784/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/bc6b99afbf97499d8f3b066aadddd600

Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia

Authors: Shiqin Yuan, Xiaoyu Huang, Shuang Zhang, Shangying Yang, Xue Rui, Xiaolong Qi, Xuhui Wang, Yali Zheng, Weining Rong, Xunlun Sheng

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: Donnai-Barrow syndrome, early-onset high myopia, compound heterozygous variation, clinical features, genetic assessment, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1107347/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/5f3383232bb241afa26efda14d9e0d55

Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

Authors: Noémi Széll, Tamás Fehér, Zoltán Maróti, Tibor Kalmár, Dóra Latinovics, István Nagy, Zsuzsanna Z. Orosz, Márta Janáky, Andrea Facskó, Zoltán Sohajda

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

Subject Terms: Early onset high myopia, X-linked female-limited high myopia, Intrinsically photosensitive retinal ganglion cell, Monogenic disorder, Mendelian inheritance, X-arrestin, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/45963b067ed840c09e848d56de2138cb

Refractive Lens Exchange Surgery in Early-Onset High Myopia Patients With Partial Cataract

Authors: Xi-Fang Zhang, Xiao-Xia Li, Chen Xin, Brad Kline, Meng-Tian Kang, Meng Li, Li-Ya Qiao, Ning-Li Wang

Source: Frontiers in Medicine, Vol 9 (2022)

Subject Terms: early-onset high myopia, partial cataract, retinal image quality, refractive lens replacement surgery, axial length, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2022.739197/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/6821f2f3eb5d49d7a43bd877225f6b7b

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

Authors: Jin, Zi-Bing, Wu, Jinyu, Huang, Xiu-Feng, Feng, Chun-Yun, Cai, Xue-Bi, Mao, Jian-Yang, Xiang, Lue, Wu, Kun-Chao, Xiao, Xueshan, Kloss, Bethany A., Li, Zhongshan, Liu, Zhenwei, Huang, Shenghai, Shen, Meixiao, Cheng, Fei-Fei, Cheng, Xue-Wen, Zheng, Zhi-Li, Chen, Xuejiao, Zhuang, Wenjuan, Zhang, Qingjiong, Young, Terri L., Xie, Ting, Lu, Fan, Qu, Jia

Source: Proceedings of the National Academy of Sciences of the United States of America, 2017 Apr . 114(16), 4219-4224.

Access URL: https://www.jstor.org/stable/26480433

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