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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. doi:

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. doi:

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. doi:

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. doi:

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: mutation, family, genes, homozygote, autosomal recessive inheritance, genetic analysis, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2218-2238. doi: 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: genetics, molecular, mutation, cataract, family, genes, homozygote, autosomal recessive inheritance, screening, congenital cataract
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2207-2217. doi: 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):6396-6396. doi: 10.1167/iovs.16-21074

ARVO Annual Meeting Abstract September 2016

Functional Dissection Shows FOXE3 Contributes to Peters Anomaly through the Transcriptional Regulation of an Autophagy Associated Co-Chaperone, DNAJB1

Shahid Yar Khan; Shivakumar Vasanth; Firoz Kabir; Arif O. Khan; Zhiwei Ma; Sheikh Riazuddin; Nader Pourmand; Norann A Zaghloul; J. Fielding Hejtmancik; S Amer Riazuddin

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

ARVO Annual Meeting Abstract September 2016

Functional Assessment of FYCO1 Underlines the Association with Autophagy and Confirms the Indispensable Role in Lens Development

Firoz Kabir; Shahid Yar Khan; Sheikh Riazuddin; Javed Akram; J. Fielding Hejtmancik; S Amer Riazuddin

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

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. doi:

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. doi:

ARVO Annual Meeting Abstract September 2016

Zebrafish and Mouse Models with Mutations in the Novel Gene ASRGL1 Develop Retinal Degeneration (RD) Recapitulating the Human Phenotype.

Pooja Biswas; Venkata R M Chavali; Naheed W Khan; John Suk; Melissa Homsher; Sheikh Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3149. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract June 2015

Identification of a mutation in ASRGL1 as the underlying cause of early-onset recessive Retinal Degeneration (RD).

Pooja Biswas; Venkata R M Chavali; Giulia Agnello; Jacque L Duncan; Muhammad Asif Naeem; Sheikh Riazuddin; James Fielding Hejtmancik; George Georgiou; S Amer Riazuddin; Radha Ayyagari; Genetics

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4348. doi:

Research Highlight November 2014

Hexokinase 1 and Retinitis Pigmentosa: Insights Into the Retina and the Molecule

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J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7165-7165. doi: 10.1167/iovs.14-15621

Genetics April 2012

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

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

Retina March 2012

GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness

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Muhammad Asif Naeem; Venkata R. M. Chavali; Shahbaz Ali; Muhammad Iqbal; Saima Riazuddin; Shaheen N. Khan; Tayyab Husnain; Paul A. Sieving; Radha Ayyagari; Sheikh Riazuddin; J. Fielding Hejtmancik; S. Amer Riazuddin
TAGS: genome, autosomal recessive inheritance, night blindness, congenital stationary
Invest. Ophthalmol. Vis. Sci.. 2012; 53(3):1353-1361. doi: 10.1167/iovs.11-8026

Lens July 2011

Overexpression of Human γC-crystallin 5 bp Duplication Disrupts Lens Morphology in Transgenic Mice

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Zhiwei Ma; Wenliang Yao; Veena Theendakara; Chi-Chao Chan; Eric Wawrousek; J. Fielding Hejtmancik
TAGS: polymerase chain reaction, western blotting, cataract, crystallins, lens, crystalline, lens (device), mice, transgenic, mice, proteins, protein overexpression, morphology, language morphology
Invest. Ophthalmol. Vis. Sci.. 2011; 52(8):5369-5375. doi: 10.1167/iovs.11-7168

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

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

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

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

Functional Dissection Shows FOXE3 Contributes to Peters Anomaly through the Transcriptional Regulation of an Autophagy Associated Co-Chaperone, DNAJB1

Functional Assessment of FYCO1 Underlines the Association with Autophagy and Confirms the Indispensable Role in Lens Development

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.

Zebrafish and Mouse Models with Mutations in the Novel Gene ASRGL1 Develop Retinal Degeneration (RD) Recapitulating the Human Phenotype.

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

Identification of a mutation in ASRGL1 as the underlying cause of early-onset recessive Retinal Degeneration (RD).

Hexokinase 1 and Retinitis Pigmentosa: Insights Into the Retina and the Molecule

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

GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness

Overexpression of Human γC-crystallin 5 bp Duplication Disrupts Lens Morphology in Transgenic Mice

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