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Retina January 2025

ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype

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Yingwei Wang; Pangfeng Wang; Zhen Yi; Jiamin Ouyang; Yi Jiang; Shiqiang Li; Xiaoyun Jia; Xueshan Xiao; James Fielding Hejtmancik; Wenmin Sun; Qingjiong Zhang
TAGS: abca4 gene, introns, phenotype
Invest. Ophthalmol. Vis. Sci.. 2025; 66(1):65. https://doi.org/10.1167/iovs.66.1.65

Includes: Supplemental Content

Genetics August 2024

The Systemic Genotype-Phenotype Characterization of PAX6 -Related Eye Disease in 164 Chinese Families

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Yi Jiang; Zhen Yi; Yuxi Zheng; Jiamin Ouyang; Dongwei Guo; Shiqiang Li; Xueshan Xiao; Panfeng Wang; Wenmin Sun; Qingjiong Zhang
TAGS: pax6 transcription factor, phenotype, family, eye, eye diseases, cohort studies, genotype, chinese (other dialects), chinese people
Invest. Ophthalmol. Vis. Sci.. 2024; 65(10):46. https://doi.org/10.1167/iovs.65.10.46

Includes: Supplemental Content

Genetics January 2024

Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families

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Dongwei Guo; Shiqiang Li; Xueshan Xiao; Yi Jiang; Yingwei Wang; Guangming Jin; Junwen Wang; Jiamin Ouyang; Xiaoyun Jia; Wenmin Sun; Panfeng Wang; Danying Zheng; Qingjiong Zhang
TAGS: cohort studies, ectopia lentis, family, fibrillin-1, genetics, genes, genotype, phenotype
Invest. Ophthalmol. Vis. Sci.. 2024; 65(1):20. https://doi.org/10.1167/iovs.65.1.20

Includes: Supplemental Content

Genetics April 2023

Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism

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Yingwei Wang; Wenmin Sun; Xueshan Xiao; Yi Jiang; Jiamin Ouyang; Junwen Wang; Zhen Yi; Shiqiang Li; Xiaoyun Jia; Panfeng Wang; J. Fielding Hejtmancik; Qingjiong Zhang
TAGS: haplotypes, myopia, retinal cone, genes, mosaicism, family
Invest. Ophthalmol. Vis. Sci.. 2023; 64(4):29. https://doi.org/10.1167/iovs.64.4.29

Includes: Supplemental Content

Genetics March 2023

The Genetic Confirmation and Clinical Characterization of LOXL3 -Associated MYP28: A Common Type of Recessive Extreme High Myopia

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Yi Jiang; Lin Zhou; Yingwei Wang; Jiamin Ouyang; Shiqiang Li; Xueshan Xiao; Xiaoyun Jia; Junwen Wang; Zhen Yi; Wenmin Sun; Xiaodong Jiao; Panfeng Wang; J. Fielding Hejtmancik; Qingjiong Zhang
TAGS: genetics, myopia
Invest. Ophthalmol. Vis. Sci.. 2023; 64(3):24. https://doi.org/10.1167/iovs.64.3.24

Includes: Supplemental Content

Biochemistry and Molecular Biology March 2023

Missense Mutations in MAB21L1 : Causation of Novel Autosomal Dominant Ocular BAMD Syndrome

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Panfeng Wang; Pengsen Wu; Junwen Wang; Yiyan Zeng; Yi Jiang; Yingwei Wang; Shiqiang Li; Xueshan Xiao; Qingjiong Zhang
TAGS: missense mutation, phenotype, syndrome, family
Invest. Ophthalmol. Vis. Sci.. 2023; 64(3):19. https://doi.org/10.1167/iovs.64.3.19

Includes: Supplemental Content

Genetics August 2022

Clinical and Genetic Analysis of RDH12 -Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy

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Junwen Wang; Yingwei Wang; Shiqiang Li; Xueshan Xiao; Zhen Yi; Yi Jiang; Xueqing Li; Xiaoyun Jia; Panfeng Wang; Chenjin Jin; Wenmin Sun; Qingjiong Zhang
TAGS: alleles, family, retinal diseases, retinitis pigmentosa, genetic analysis, chinese (other dialects), phenotype, chinese people
Invest. Ophthalmol. Vis. Sci.. 2022; 63(9):24. https://doi.org/10.1167/iovs.63.9.24

Includes: Supplemental Content

Genetics May 2022

Different Phenotypes Represent Advancing Stages of ABCA4 -Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center

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Yingwei Wang; Wenmin Sun; Jing Zhou; Xueqing Li; Yi Jiang; Shiqiang Li; Xiaoyun Jia; Xueshan Xiao; Jiamin Ouyang; Yueye Wang; Lin Zhou; Yuxi Long; Mengchu Liu; Yongyu Li; Zhen Yi; Panfeng Wang; Qingjiong Zhang
TAGS: abca4 gene, chinese (other dialects), chinese people, longitudinal studies, phenotype, retinal diseases, family
Invest. Ophthalmol. Vis. Sci.. 2022; 63(5):28. https://doi.org/10.1167/iovs.63.5.28

Includes: Supplemental Content

Genetics May 2022

Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867

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Junwen Wang; Yingwei Wang; Yi Jiang; Xueqing Li; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Wenmin Sun; Panfeng Wang; Qingjiong Zhang
TAGS: amino acids, proteins, retinitis pigmentosa, datasets, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2022; 63(5):19. https://doi.org/10.1167/iovs.63.5.19

Includes: Supplemental Content

Genetics August 2021

Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement

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Yi Jiang; Shiqiang Li; Xueshan Xiao; Wenmin Sun; Qingjiong Zhang
TAGS: cohort studies, foveal hypoplasia, iris, pathologic nystagmus, pax6 transcription factor, phenotype, genotype
Invest. Ophthalmol. Vis. Sci.. 2021; 62(10):23. https://doi.org/10.1167/iovs.62.10.23

Includes: Supplemental Content

Retina May 2021

Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration

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Yingwei Wang; Panfeng Wang; Shiqiang Li; Jiamin Ouyang; Xiaoyun Jia; Xueshan Xiao; Junxing Yang; Xueqing Li; Wenmin Sun; Qingjiong Zhang
TAGS: bone spicule in retina, chinese (other dialects), chinese people, cohort studies, family, macular dystrophy, phenotype, tissue degeneration, heterozygote, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2021; 62(6):19. https://doi.org/10.1167/iovs.62.6.19

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

High myopia with alopecia areata in cranial midline：COL18A1 and LAMA1 mutant

Panfeng Wang; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):391.

Articles April 2019

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

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Panfeng Wang; Shiqiang Li; Wenming Sun; Xueshan Xiao; Xiaoyun Jia; Mengchu Liu; Lieqiang Xu; Yuxi Long; Qingjiong Zhang
TAGS: eye, eye diseases, hereditary, massively-parallel genome sequencing, mutation, whole exome sequencing, proband, genes
Trans. Vis. Sci. Tech.. 2019; 8(2):21. https://doi.org/10.1167/tvst.8.2.21

Includes: Supplemental Content

Genetics January 2019

Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease

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Wenmin Sun; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Panfeng Wang; Qingjiong Zhang
TAGS: beta catenin, congenital progressive oculo-acoustico-cerebral degeneration, familial exudative vitreoretinopathies, germ-line mutation, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(1):93-97. https://doi.org/10.1167/iovs.18-25142

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Mutation survey of candidate genes in 22 Chinese patients with Axenfeld-Rieger syndrome

Xun Wang; Xing Liu; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Xiangming Guo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):572.

ARVO Annual Meeting Abstract June 2017

Reinspection of FEVR based on exome sequencing: a common disease with extremely variable phenotypes

Qingjiong Zhang; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Xiangming Guo

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1237.

ARVO Annual Meeting Abstract September 2016

New locus for autosomal dominant aniridia in a Chinese family

Panfeng Wang; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Xiangming Guo; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):674.

ARVO Annual Meeting Abstract September 2016

Frequent mutations of genes involved in OXPHOS and optic neuropathy detected by whole exome sequencing of 257 Glaucoma Patients

Xiaobo Huang; Xueshan Xiao; Xiaoyun Jia; Shiqiang Li; Panfeng Wang; Yimin Zhong; Xiangming Guo; Xing Liu; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):820.

ARVO Annual Meeting Abstract September 2016

Mutations in MT-ND4, MT-ND6 and MT-ND1 genes of 3013 Chinese patients suspected with Leber hereditary optic neuropathy: A 20-year retrospective

Xiaoyun Jia; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6582.

Biochemistry and Molecular Biology December 2015

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes

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Wenmin Sun; Li Huang; Yan Xu; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Bei Gao; Panfeng Wang; Xiangming Guo; Qingjiong Zhang
TAGS: genes, mutation, myopia, proband, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8365-8372. https://doi.org/10.1167/iovs.15-17555

Includes: Supplemental Content

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ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype

The Systemic Genotype-Phenotype Characterization of PAX6 -Related Eye Disease in 164 Chinese Families

Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families

Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism

The Genetic Confirmation and Clinical Characterization of LOXL3 -Associated MYP28: A Common Type of Recessive Extreme High Myopia

Missense Mutations in MAB21L1 : Causation of Novel Autosomal Dominant Ocular BAMD Syndrome

Clinical and Genetic Analysis of RDH12 -Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy

Different Phenotypes Represent Advancing Stages of ABCA4 -Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center

Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867

Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement

Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration

High myopia with alopecia areata in cranial midline：COL18A1 and LAMA1 mutant

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease

Mutation survey of candidate genes in 22 Chinese patients with Axenfeld-Rieger syndrome

Reinspection of FEVR based on exome sequencing: a common disease with extremely variable phenotypes

New locus for autosomal dominant aniridia in a Chinese family

Frequent mutations of genes involved in OXPHOS and optic neuropathy detected by whole exome sequencing of 257 Glaucoma Patients

Mutations in MT-ND4, MT-ND6 and MT-ND1 genes of 3013 Chinese patients suspected with Leber hereditary optic neuropathy: A 20-year retrospective

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes

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