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ARVO Annual Meeting Abstract June 2025

Age Estimation of TMEM216 c.-69G>A and c.-69G>T Mutations in Pakistani and African Populations Affected by Non-Syndromic Retinitis Pigmentosa

Shiwali Goyal; Xiaodong Jiao; Pooja Biswas; Siying Lin; Samantha Malka; Mukhtar Ullah; Mathieu Quinodoz; S Amer Riazuddin; Gavin Arno; Muhammad Ansar; Carlo Rivolta; Radha Ayyagari; Andrew Webster; James Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3137.

ARVO Annual Meeting Abstract June 2025

Progressive Chorioretinopathy in Bietti’s Crystalline Dystrophy by Multimodal Retinal Imaging

Qian LI; Xiaodong Jiao; James Fielding Hejtmancik; Xiaoyan Peng

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5513.

ARVO Annual Meeting Abstract June 2025

Whole Exome Sequencing Identifies Novel and Known Mutations in 15 Pakistani Families with Inherited Retinal Dystrophies

Mohd Hussain Hussain Shah; Xiaodong Jiao; Shiwali Goyal; Sheikh Riazuddin; S Amer Riazuddin; Bushra Rauf; Muhammad Asif Naeem; Radha Ayyagari; James Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1826.

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.

Genetics March 2023

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

PDF

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

PDF

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

ARVO Annual Meeting Abstract June 2022

Gene Silencing by DNA Methylation Predicts Chromatin Regions and Transcription Factors Required for Lens Differentiation

Joshua Disatham; Lisa A Brennan; Xiaodong Jiao; Zhiwei Ma; James F Hejtmancik; Marc Kantorow

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):838.

Lens April 2022

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

PDF

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

PDF

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

ARVO Annual Meeting Abstract June 2020

Mutated trβ2 leads to alterations in the ON-bipolar and ganglion cells of the zebrafish retina

Ciana Deveau; Xiaodong Jiao; Fielding Hejtmancik; Ralph F Nelson

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4511.

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

Diagnosis strategies of Congenital Fibrosis of the Extraocular Muscles (CFEOM) Families

lin li; Qin Shen; XIAODONG JIAO; James F Hejtmancik; Xianqun Fan

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2932.

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.

Genetics May 2017

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

PDF

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

PDF

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

ARVO Annual Meeting Abstract June 2015

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous pedigree

Firoz Kabir; Xiaodong Jiao; Adam Ronchetti; Alexander Gottsch; Shaheen N khan; Tayyab Husnain; Sheikh Riazuddin; Duska J. Sidjanin; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5598.

ARVO Annual Meeting Abstract June 2015

A common ancestral mutation in CRYBB3 identified in multiple consanguineous pedigrees with congenital cataracts

Xiaodong Jiao; Firoz Kabir; Arif Khan; Qiwei Wang; David Li; Shaheen N khan; Tayyab Husnain; Sheikh Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2527.

Genetics April 2012

Evaluation of SNPs on Chromosome 2p with Primary Open Angle Glaucoma in the South Indian Cohort

PDF

Suganthalakshmi Balasubbu; Subbaiah R. Krishnadas; Xiaodong Jiao; J. Fielding Hejtmancik; Periasamy Sundaresan
TAGS: chromosomes, cohort studies, glaucoma, open-angle glaucoma, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2012; 53(4):1861-1864. https://doi.org/10.1167/iovs.11-8602

ARVO Annual Meeting Abstract March 2012

Lack Of Phenotypic Effect Of Triallelic Variation In Spata7 In A Family With Leber Congenital Amaurosis Resulting From Crb1 Mutations

Lin Li; Xueshan Xiao; Shiqiang Li; Xiaodong Jiao; J. Fielding Hejtmancik; Qingjiong Zhang

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1581.

ARVO Annual Meeting Abstract March 2012

CDKN2B Polymorphism Is Associated With POAG In The Afro-caribbean Population Of Barbados

Xiaodong Jiao; Dan Cao; Anselm Hennis; Barbara Nemesure; M. Cristina Leske; James Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4494.

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Age Estimation of TMEM216 c.-69G>A and c.-69G>T Mutations in Pakistani and African Populations Affected by Non-Syndromic Retinitis Pigmentosa

Progressive Chorioretinopathy in Bietti’s Crystalline Dystrophy by Multimodal Retinal Imaging

Whole Exome Sequencing Identifies Novel and Known Mutations in 15 Pakistani Families with Inherited Retinal Dystrophies

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.

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

Gene Silencing by DNA Methylation Predicts Chromatin Regions and Transcription Factors Required for Lens Differentiation

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

Mutated trβ2 leads to alterations in the ON-bipolar and ganglion cells of the zebrafish retina

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

Diagnosis strategies of Congenital Fibrosis of the Extraocular Muscles (CFEOM) Families

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

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

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous pedigree

A common ancestral mutation in CRYBB3 identified in multiple consanguineous pedigrees with congenital cataracts

Evaluation of SNPs on Chromosome 2p with Primary Open Angle Glaucoma in the South Indian Cohort

Lack Of Phenotypic Effect Of Triallelic Variation In Spata7 In A Family With Leber Congenital Amaurosis Resulting From Crb1 Mutations

CDKN2B Polymorphism Is Associated With POAG In The Afro-caribbean Population Of Barbados

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