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ARVO Annual Meeting Abstract June 2022

Exploring the p.Gly863Ala variant in ABCA4: the complex allele with p.Asn1868Ile is enriched in ABCA4-retinopathy patients compared to the general population

Mark Simcoe; Sandra Vermeirsch; Nikolas Pontikos; John Chiang; Christopher J Hammond; Pirro G Hysi; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster; Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1590 – A0379. doi:

ARVO Annual Meeting Abstract June 2020

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy

Sarah Hull; Gulunay Kiray; John Chiang; Andrea L Vincent

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2383. doi:

ARVO Annual Meeting Abstract June 2020

Clinical and molecular diagnosis for 20 families with inherited retinal degeneration

Lea Bennett; John (P-W) Chiang; Bojana Radojevic

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2420. doi:

ARVO Annual Meeting Abstract July 2019

Improving diagnostic yield in a large inherited retinal dystrophy cohort with high-throughput, NGS-based CNV calling -- a clinical evaluation of detection criteria and limitations

Nicholas K Wang; Jie Duan; Christa Kohnert; Gregory Goh; Wei Zhou; John (P-W) Chiang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):390. doi:

ARVO Annual Meeting Abstract July 2019

Retinal phenotypic characterization of a Brazilian cohort of patients with homozygous ABCA4 alleles

Fernanda Belga Ottoni Porto; Shirley AM Sampaio; Simões T Renata; Rui Chen; John (P-W) Chiang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):408. doi:

Retina May 2019

Multimodal Imaging in Best Vitelliform Macular Dystrophy

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Jose Ronaldo Lima de Carvalho, Jr; Maarjaliis Paavo; Lijuan Chen; John Chiang; Stephen H. Tsang; Janet R. Sparrow
TAGS: autofluorescence, eye, multimodal imaging, spectral domain-optical coherence tomography, vitelliform dystrophy
Invest. Ophthalmol. Vis. Sci.. 2019; 60(6):2012-2022. doi: https://doi.org/10.1167/iovs.19-26571

Genetics September 2018

Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort

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John P. W. Chiang; Tina M. Lamey; Nicholas K. Wang; Jie Duan; Wei Zhou; Terri L. McLaren; Jennifer A. Thompson; Jonathan Ruddle; John N. De Roach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4434-4440. doi: https://doi.org/10.1167/iovs.18-24555

ARVO Annual Meeting Abstract July 2018

High Throughput Clinical Testing of RPGR ORF15 Mutations in Patients with Inherited Retinal Dystrophy

John (P-W) Chiang; Tina, M Lamey; Jie Duan; Nicholas Wang; Terri L McLaren; Jennifer A Thompson; Jonathan Ruddle; John N De Roach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2330. doi:

ARVO Annual Meeting Abstract July 2018

Careful clinical-functional phenotyping combined with systematic, broad NGS Panel-based genotyping identify numerous novel disease-causing mutations and deletions in inherited retinal dystrophy (IRD) patients

Alessandro Iannaccone; Jay Berdia; Wajiha Kheir; Lindsay Mighion; Nicholas Wang; Cristina DaSilva; Jie Duan; John J. Alexander; John (P-W) Chiang

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5410. doi:

Genetics November 2017

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype–Phenotype Correlation

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Mariana Vallim Salles; Fabiana Louise Motta; Elton Dias da Silva; Patricia Varela; Kárita Antunes Costa; Rafael Filippelli-Silva; Renan Paulo Martin; John (Pei-Wen) Chiang; João Bosco Pesquero; Juliana Maria Ferraz Sallum
TAGS: alleles, genes, genotype-phenotype associations, stargardt's disease, segregation analysis, family
Invest. Ophthalmol. Vis. Sci.. 2017; 58(13):5723-5730. doi: https://doi.org/10.1167/iovs.17-22398

ARVO Annual Meeting Abstract June 2017

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Ana Fakin; Valentina Cipriani; Stanley Lambertus; Nathalie Bax; Anthony G Robson; Kaoru Fujinami; John Chiang; Anthony T Moore; Michel Michaelides; Graham E Holder; Carel C B Hoyng; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3423. doi:

ARVO Annual Meeting Abstract June 2017

Genetic characteristics of an international large cohort with Stargardt disease: The ProgStar study

Kaoru Fujinami; Rupert Wolfgang Strauss; John Chiang; Isabelle S Audo; Paul S Bernstein; David G Birch; Samuel G Jacobson; Brian C Mansfield; Meghan J Marino; Jose Alain Sahel; Saddek Mohand-Said; Janet S Sunness; Elias I Traboulsi; Eberhart Zrenner; Michel Michaelides; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4638. doi:

ARVO Annual Meeting Abstract June 2017

Segregation analyze in Stargardt patients’ families: investigation of complex allele in ABCA4 gene

Mariana V Salles; Fabiana Louise Motta; Karita Antunes Costa; John Chiang; João Bosco Pesquero; Juliana M F Sallum

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2775. doi:

Retina November 2016

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients

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Ana Fakin; Anthony G. Robson; John (Pei-Wen) Chiang; Kaoru Fujinami; Anthony T. Moore; Michel Michaelides; Graham E. Holder; Andrew R. Webster
TAGS: mutation, hemizygosity, alleles, severity of illness, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):5963-5973. doi: https://doi.org/10.1167/iovs.16-20446

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Full field ERG responses and fundus autofluorescence of Stargardt patients harboring different non-null ABCA4 alleles in trans with null alleles

Ana Fakin; Anthony G Robson; Michel Michaelides; John (pei wen) Chiang; Anthony T Moore; Graham E Holder; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6589. doi:

ARVO Annual Meeting Abstract September 2016

Association of a BEST1 Mutation with Retinitis Pigmentosa

Lauren A Dalvin; Jackson Abou Chehade; John (pei wen) Chiang; Josefine Fuchs; Raymond Iezzi; Alan D Marmorstein

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):655. doi:

ARVO Annual Meeting Abstract September 2016

Photoreceptors, RPE and choriocapillaris loss in Stargardt disease as measured by OCT angiography and en face OCT.

Talal Alabduljalil; Abdullah Aoun Alqahtani; Rachel C. Patel; Simon S. Gao; Miao Zhang; Yali Jia; David Huang; Rui Chen; John Pei - wen Chiang; Paul Yang; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5111. doi:

ARVO Annual Meeting Abstract September 2016

Genetic Testing Based on Next Generation Sequencing (NGS) for Retinitis Pigmentosa (RP) in Brazilian Patients

Juliana M F Sallum; Karita Antunes Costa; MARIANA SALLES; John Pei - wen Chiang

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3156. doi:

Retina September 2016

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4

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Ana Fakin; Anthony G. Robson; Kaoru Fujinami; Anthony T. Moore; Michel Michaelides; John (Pei-Wen) Chiang; Graham E. Holder; Andrew R. Webster
TAGS: electroretinography, mutation, phenotype, retinal degeneration, rna splicing, visual acuity, fundus autofluorescence imaging, age of onset
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4668-4678. doi: https://doi.org/10.1167/iovs.16-19829

Includes: Supplemental Content

Retina August 2016

Residual Foveal Cone Structure in CNGB3 -Associated Achromatopsia

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Christopher S. Langlo; Emily J. Patterson; Brian P. Higgins; Phyllis Summerfelt; Moataz M. Razeen; Laura R. Erker; Maria Parker; Frederick T. Collison; Gerald A. Fishman; Christine N. Kay; Jing Zhang; Richard G. Weleber; Paul Yang; David J. Wilson; Mark E. Pennesi; Byron L. Lam; John Chiang; Jeffrey D. Chulay; Alfredo Dubra; William W. Hauswirth; Joseph Carroll; for the ACHM-001 Study Group
TAGS: achromatopsia, retinal cone
Invest. Ophthalmol. Vis. Sci.. 2016; 57(10):3984-3995. doi: https://doi.org/10.1167/iovs.16-19313

Includes: Supplemental Content

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Exploring the p.Gly863Ala variant in ABCA4: the complex allele with p.Asn1868Ile is enriched in ABCA4-retinopathy patients compared to the general population

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy

Clinical and molecular diagnosis for 20 families with inherited retinal degeneration

Improving diagnostic yield in a large inherited retinal dystrophy cohort with high-throughput, NGS-based CNV calling -- a clinical evaluation of detection criteria and limitations

Retinal phenotypic characterization of a Brazilian cohort of patients with homozygous ABCA4 alleles

Multimodal Imaging in Best Vitelliform Macular Dystrophy

Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort

High Throughput Clinical Testing of RPGR ORF15 Mutations in Patients with Inherited Retinal Dystrophy

Careful clinical-functional phenotyping combined with systematic, broad NGS Panel-based genotyping identify numerous novel disease-causing mutations and deletions in inherited retinal dystrophy (IRD) patients

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype–Phenotype Correlation

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Genetic characteristics of an international large cohort with Stargardt disease: The ProgStar study

Segregation analyze in Stargardt patients’ families: investigation of complex allele in ABCA4 gene

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients

Full field ERG responses and fundus autofluorescence of Stargardt patients harboring different non-null ABCA4 alleles in trans with null alleles

Association of a BEST1 Mutation with Retinitis Pigmentosa

Photoreceptors, RPE and choriocapillaris loss in Stargardt disease as measured by OCT angiography and en face OCT.

Genetic Testing Based on Next Generation Sequencing (NGS) for Retinitis Pigmentosa (RP) in Brazilian Patients

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4

Residual Foveal Cone Structure in CNGB3 -Associated Achromatopsia

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