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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

ARVO Annual Meeting Abstract June 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

ARVO Annual Meeting Abstract June 2024

Targeted lipidomics uncovers oxylipin perturbations in Bietti's crystalline dystrophy

Qian LI; Zhongjie Fu; James Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1696.

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

Lens March 2023

SIRT1 Inhibits High Glucose–Induced TXNIP/NLRP3 Inflammasome Activation and Cataract Formation

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Lili Lian; Zhenmin Le; Zhenzhen Wang; Ying-ao Chen; Xiaodong Jiao; Hang Qi; J. Fielding Hejtmancik; Xiaoyin Ma; Qinxiang Zheng; Yueping Ren
TAGS: cataract, glucose, inflammasomes, nlr family, pyrin domain-containing 3 protein
Invest. Ophthalmol. Vis. Sci.. 2023; 64(3):16. https://doi.org/10.1167/iovs.64.3.16

Includes: Supplemental Content

Lens April 2022

Patterns of Crystallin Gene Expression in Differentiation State Specific Regions of the Embryonic Chicken Lens

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Zhiwei Ma; Daniel Chauss; Joshua Disatham; Xiaodong Jiao; Lisa Ann Brennan; A. Sue Menko; Marc Kantorow; J. Fielding Hejtmancik
TAGS: crystallins, genes, lens (device), lens, crystalline, chickens, gene expression, embryo
Invest. Ophthalmol. Vis. Sci.. 2022; 63(4):8. https://doi.org/10.1167/iovs.63.4.8

Includes: Supplemental Content

Lens December 2021

Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts

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Sheldon Rowan; Shuhong Jiang; Sarah G. Francisco; Laura C. D. Pomatto; Zhiwei Ma; Xiaodong Jiao; Maria M. Campos; Sandeep Aryal; Shaili D. Patel; Binapani Mahaling; S. Amer Riazuddin; Elia J. Duh; Salil A. Lachke; J. Fielding Hejtmancik; Rafael de Cabo; Paul G. FitzGerald; Allen Taylor
TAGS: cataract, cataract, senile, lens (device), lens, crystalline, mice
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):10. https://doi.org/10.1167/iovs.62.15.10

Includes: Supplemental Content

Biochemistry and Molecular Biology November 2021

LncRNA NEAT1 Recruits SFPQ to Regulate MITF Splicing and Control RPE Cell Proliferation

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Xiaojuan Hu; Fang Li; Junhao He; Juan Yang; Ye Jiang; Mingyuan Jiang; Dandan Wei; Lifu Chang; J. Fielding Hejtmancik; Ling Hou; Xiaoyin Ma
TAGS: mitf protein, ptb-associated splicing factor, retinal pigment cell, rna splicing, rna, messenger
Invest. Ophthalmol. Vis. Sci.. 2021; 62(14):18. https://doi.org/10.1167/iovs.62.14.18

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

The physiological significance of autophagy in lens morphogenesis

S Amer Riazuddin; Shahid Yar Khan; Muhammad Ali; Firoz Kabir; Chan Hyun Na; Yinghong Ma; Caihong Qiu; Muhammad Asif Naeem; Sheikh Riazuddin; J Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2232.

ARVO Annual Meeting Abstract July 2019

Thyroid hormone receptor beta mutations alter or eliminate the signals of long-wavelength cones in zebrafish retina

Ciana Deveau; Asha Krishnakumar; xiaodong jiao; Sachihiro Suzuki; Takeshi Yoshimatsu; J Fielding Hejtmancik; Rachel O Wong; Ralph F Nelson

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):561.

ARVO Annual Meeting Abstract July 2018

A homozygous mutation in the novel gene ARFGAP2 is associated with non-syndromic recessive inherited retinal degeneration (IRD).

Pooja Biswas; Anil Kumar Chekuri; Jason Ear; Shyamanga Borooah; Hiroko Matsui; Matteo D'Antonio; Kelly A. Frazer; Sindhura Devalaraja; Shahid Yar Khan; Muhammad Asif Naeem; Sheikh Riazuddin; Javed Akram; J. Fielding Hejtmancik; Pradipta Ghosh; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5383.

ARVO Annual Meeting Abstract June 2017

Homozygosity mapping and Genetic analysis of autosomal recessive Retinal Dystrophies in 144 consanguineous Pakistani Families

lin li; Yabin Chen; Xiaodong Jiao; J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3816.

ARVO Annual Meeting Abstract June 2017

Involvement of the novel gene IFT43 in causing early onset non-syndromic retinal degeneration.

Pooja Biswas; Jacque L. Duncan; Muhammad Ali; Muhammad Asif Naeem; S. Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3821.

ARVO Annual Meeting Abstract June 2017

Investigating the role of pexophagy in the development of the ocular lens and cataractogenesis

Muhammad Ali; Shahid Yar Khan; Firoz Kabir; Sheikh Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2042.

Genetics May 2017

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

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Lin Li; Yabin Chen; Xiaodong Jiao; Chongfei Jin; Dan Jiang; Mukesh Tanwar; Zhiwei Ma; Li Huang; Xiaoyin Ma; Wenmin Sun; Jianjun Chen; Yan Ma; Oussama M'hamdi; Gowthaman Govindarajan; Patricia E. Cabrera; Jiali Li; Nikhil Gupta; Muhammad Asif Naeem; Shaheen N. Khan; Sheikh Riazuddin; Javed Akram; Radha Ayyagari; Paul A. Sieving; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: family, homozygote, retinal dystrophies, autosomal recessive inheritance, mutation, genetic analysis, genes
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2218-2238. https://doi.org/10.1167/iovs.17-21424

Includes: Supplemental Content

Genetics April 2017

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

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Jianjun Chen; Qiwei Wang; Patricia E. Cabrera; Zilin Zhong; Wenmin Sun; Xiaodong Jiao; Yabin Chen; Gowthaman Govindarajan; Muhammad Asif Naeem; Shaheen N. Khan; Muhammad Hassaan Ali; Muhammad Zaman Assir; Fawad Ur Rahman; Zaheeruddin A. Qazi; Sheikh Riazuddin; Javed Akram; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: autosomal recessive inheritance, cataract, congenital cataract, family, homozygote, mutation, screening, genes, genetics, molecular
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2207-2217. https://doi.org/10.1167/iovs.17-21469

Includes: Supplemental Content

Research Highlight November 2016

Congenital Cataracts: Classification and Association With Anterior Segment Abnormalities

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Manuel B. Datiles; J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6396. https://doi.org/10.1167/iovs.16-21074

ARVO Annual Meeting Abstract September 2016

Exome Analysis Detected a Novel 7.4 kb Deletion in the PRPH2 Gene as the Underlying Cause of Recessive Retinal Degeneration in a Consanguineous Family.

Kameron Kishaba; Pooja Biswas; John Suk; Inayat Ullah; Muhammad Asif Naeem; Sheikh Riazuddin; Javed Akram; J. Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3137.

ARVO Annual Meeting Abstract September 2016

Identification of a novel frame-shift deletion in the CHM gene in a consanguineous family.

Aditya A Guru; Pooja Biswas; John Suk; Kameron Kishaba; Inayat Ullah; Muhammad Asif Naeem; Sheikh Riazuddin; S Amer Riazuddin; Radha Ayyagari; J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3144.

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

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Targeted lipidomics uncovers oxylipin perturbations in Bietti's crystalline dystrophy

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

SIRT1 Inhibits High Glucose–Induced TXNIP/NLRP3 Inflammasome Activation and Cataract Formation

Patterns of Crystallin Gene Expression in Differentiation State Specific Regions of the Embryonic Chicken Lens

Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts

LncRNA NEAT1 Recruits SFPQ to Regulate MITF Splicing and Control RPE Cell Proliferation

The physiological significance of autophagy in lens morphogenesis

Thyroid hormone receptor beta mutations alter or eliminate the signals of long-wavelength cones in zebrafish retina

A homozygous mutation in the novel gene ARFGAP2 is associated with non-syndromic recessive inherited retinal degeneration (IRD).

Homozygosity mapping and Genetic analysis of autosomal recessive Retinal Dystrophies in 144 consanguineous Pakistani Families

Involvement of the novel gene IFT43 in causing early onset non-syndromic retinal degeneration.

Investigating the role of pexophagy in the development of the ocular lens and cataractogenesis

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Congenital Cataracts: Classification and Association With Anterior Segment Abnormalities

Exome Analysis Detected a Novel 7.4 kb Deletion in the PRPH2 Gene as the Underlying Cause of Recessive Retinal Degeneration in a Consanguineous Family.

Identification of a novel frame-shift deletion in the CHM gene in a consanguineous family.

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