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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

ARVO Annual Meeting Abstract June 2023

Coarse-scale optoretinography (CoORG) for an extended field-of-view assessment of retinal function

Teng Liu; Xiaoyun Jiang; Vimal Prabhu Pandiyan; Ben Wendel; Emily Slezak; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3349.

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

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

ARVO Annual Meeting Abstract June 2022

Multimodal high-resolution imaging of retinal function in Retinitis Pigmentosa

Ben J Wendel; Vimal Prabhu Pandiyan; Xiaoyun Jiang; Ayoub Lassoued; Emily Slezak; William Scott Tuten; Debarshi Mustafi; Jennifer R Chao; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2686.

ARVO Annual Meeting Abstract June 2022

Investigating the factors limiting visual acuity at different wavelengths.

SARA AISSATI; Palash Bharadwaj; Emily Slezak; Xiaoyun Jiang; Sierra Schleufer; Susana Marcos; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2561 – F0515.

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

Article February 2022

Cortical distance unifies the extent of parafoveal contour interactions

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Daniel R. Coates; Xiaoyun Jiang; Dennis M. Levi; Ramkumar Sabesan
TAGS: crowding, fovea centralis, parafoveal region, psychophysics
Journal of Vision. 2022; 22(2):15. https://doi.org/10.1167/jov.22.2.15

ARVO Annual Meeting Abstract June 2021

Variation of human cone spectral composition with eccentricity

Vimal Prabhu Pandiyan; Sierra Schleufer; Hongyi Yan; Xiaoyun Jiang; James Kuchenbecker; Maureen Neitz; Jay Neitz; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):51.

ARVO Annual Meeting Abstract June 2021

Reflective mirror-based line-scan adaptive optics optical coherence tomography

Xiaoyun Jiang; Vimal Prabhu Pandiyan; James Kuchenbecker; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1817.

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 June 2020

Cone spectral classification with adaptive optics line-field OCT

Ramkumar Sabesan; Vimal Prabhu Pandiyan; Xiaoyun Jiang; James A Kuchenbecker; Maureen Neitz; Jay Neitz

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1127.

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.

ARVO Annual Meeting Abstract July 2019

S-cone function in Blue Cone Monochromacy

Jennifer R Chao; Xiaoyun Jiang; James A Kuchenbecker; Anna-Lisa Doebley; Maureen Neitz; Jay Neitz; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):585.

ARVO Annual Meeting Abstract July 2019

The Rayleigh limit of the parvocellular pathway

Daniel R. Coates; Xiaoyun Jiang; James A Kuchenbecker; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1312.

OSA Fall Vision Meeting Abstract July 2019

High acuity vision corrected for chromatic and monochromatic aberrations is associated with color discrimination without red-green or blue-yellow sensations

Alexandra Neitz; Xiaoyun Jiang; James A. Kuchenbecker; Sara S. Patterson; Anna-Lisa Doebley; Maureen Neitz; Jay Neitz; Ramkumar Sabesan

Journal of Vision. 2019; 19(8):12. https://doi.org/10.1167/19.8.12

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

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

Coarse-scale optoretinography (CoORG) for an extended field-of-view assessment of retinal function

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

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

Multimodal high-resolution imaging of retinal function in Retinitis Pigmentosa

Investigating the factors limiting visual acuity at different wavelengths.

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

Cortical distance unifies the extent of parafoveal contour interactions

Variation of human cone spectral composition with eccentricity

Reflective mirror-based line-scan adaptive optics optical coherence tomography

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

Cone spectral classification with adaptive optics line-field OCT

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

S-cone function in Blue Cone Monochromacy

The Rayleigh limit of the parvocellular pathway

High acuity vision corrected for chromatic and monochromatic aberrations is associated with color discrimination without red-green or blue-yellow sensations

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

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