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ARVO Annual Meeting Abstract June 2025

Novel Luminal Domain ATF6 Mutations Identified in Achromatopsia Patients

William Temme; Eun-Jin Lee; Stephen Tsang; Mary Elizabeth Hartnett; Eric chi-Hsien Peng; Jonathan Lin

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):4367.

ARVO Annual Meeting Abstract June 2025

Bisretinoid Lipofuscin accumulation in IPSC-RPE cells

Diego Montenegro; Yao Li; Stephen Tsang; Janet R Sparrow

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6004.

ARVO Annual Meeting Abstract June 2025

Preliminary Data Demonstrates That Genotype Predicts Viability for Optogenetic Therapy

Johnathan Bailey; Maximilian Daechul Kong; Stephen Tsang

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1467.

ARVO Annual Meeting Abstract June 2025

Natural History of MAK -Associated Retinitis Pigmentosa

Maximilian Daechul Kong; Johnathan Abraham Bailey; Abdhel Exinor; Noah Mitchell Heaps; Scott E Brodie; Stephen H Tsang

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5139.

ARVO Annual Meeting Abstract June 2025

Primary cilia defects in patient iPSC-RPE lead to mitochondrial changes potentially contributing to ciliopathy-mediated retinal degeneration

Dominik Reichert; Davide Ortolan; Sena Gul; Jair Montford; Jiwon Ryu; Kati Veres; Wadih M Zein; Laryssa Huryn; Stephen H Tsang; Brian P. Brooks; Helen May-Simera; Ruchi Sharma; Kapil Bharti

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1246.

ARVO Annual Meeting Abstract June 2025

Recurrent inherited and de novo variants in U4 and U6 snRNAs underlie retinitis pigmentosa in 58 families

Kim Rodenburg; Mathieu Quinodoz; Suzanne de Bruijn; Karolina Kaminska; Zuzana Cvackova; Erica Boonen; Ana Belen Iglesias Romero; Nick Zomer; Marc Folcher; Mukhtar Ullah; Chaim Landau; Allan I Jacob; Stephen H Tsang; Jacques Bijon; K Bailey Freund; Winston Lee; Frans P Cremers; Jamie M Ellingford; David Staněk; Susanne Roosing; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1925.

ARVO Annual Meeting Abstract June 2024

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Imran H Yusuf; Richard Caswell; Stephen H Tsang; Carmen Ayuso; Dror Sharon; Juliana M F Sallum; Carel C B Hoyng; Petra Liskova; Ajoy Vincent; Madhavan Jagadeesan; Bart Peter Leroy; Jose Millán; Smaragda Kamakari; Andrew Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2132.

ARVO Annual Meeting Abstract June 2024

Gildeuretinol Enables the Vitamin A Cycle

Hendrik P Scholl; Leonide Saad; Gabrielle DeBartolomeo; Neil M Bressler; Stephen H Tsang; Kimberly E Stepien; Paul S Bernstein; Byron L Lam; Michael B Gorin; Ilyas Washington; Christine Nichols Kay

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6438.

ARVO Annual Meeting Abstract June 2024

Mitochondrial dysfunction in retinal degeneration-a pilot study based on the model of inherited optic atrophy- A Novel Mouse Model for Autosomal Dominant Optic Atrophy

Eugene Yu-Chuan Kang; Pei-Hsuan Lin; Yun-Ju Tseng; Gulgun Tezel; Chi-Neu Tsai; Stephen H Tsang; Chyuan-Sheng Lin; Nan-Kai Wang

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2555.

ARVO Annual Meeting Abstract June 2024

Implications and Considerations for Gene Therapy in a Novel no-b-wave Mouse Model Resembling Congenital Stationary Night Blindness (CSNB)

PEI-HSUAN LIN; Eugene Yu-Chuan Kang; Winston Lee; Neoklis Makrides; Yun-Ju Tseng; Xin Zhang; Stephen H Tsang; Nan-Kai Wang

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2213.

ARVO Annual Meeting Abstract June 2024

Natural history of DHDDS-associated Retinitis Pigmentosa 59

Promie Ruhini Faruque; Mohamed M Sylla; Irene H Maumenee; Megan Soucy; Jimmy K Duong; Aykut Demirkol; Scott E Brodie; Stephen H Tsang

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3113.

ARVO Annual Meeting Abstract June 2023

Genotype is a Significant Factor in Determining the Measurability of Atrophic Lesions in ABCA4 disease

Winston Lee; PEI-YIN SU; Jana Zernant; Stephen Tsang; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5409.

ARVO Annual Meeting Abstract June 2023

New trans -modifier genes in the most common monogenic eye disorder, ABCA4/Stargardt disease.

Jana Zernant; Winston Lee; Takayuki Nagasaki; PEI-YIN SU; Stephen H. Tsang; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2798.

ARVO Annual Meeting Abstract June 2023

Development of a Prime Editing Strategy to Treat Mutations in the Crumbs Homologue 1 ( CRB1 ) Gene

Bruna Lopes Costa; Alexander A. Sousa; Yi-Ting Tsai; Yao Li; Irene H. Maumenee; David R. Liu; Stephen H. Tsang; Peter M.J. Quinn

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3862.

ARVO Annual Meeting Abstract June 2023

Prime Editing Rescues Aberrant Splicing Defect Caused by Pathogenic Variants in PRPH2

Peter M.J. Quinn; Yi-Ting Tsai; Salvatore Marco Caruso; Siyuan Liu; Yao Li; Stephen H. Tsang; Bruna Lopes da Costa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3860.

ARVO Annual Meeting Abstract June 2023

Development of a Gene Augmentation Strategy for CRB1 -mediated Inherited Retinal Diseases

Joel Alan Imventarza; Keith Theodore; Bruna Lopes da Costa; Salvatore Marco Caruso; Stephen H. Tsang; Yi-Ting Tsai; Peter M.J. Quinn

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3843.

Retina May 2023

Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence

PDF

Vivienne C. Greenstein; David S. Castillejos; Stephen H. Tsang; Winston Lee; Janet R. Sparrow; Rando Allikmets; David G. Birch; Donald C. Hood
TAGS: face, fundus autofluorescence imaging, optical coherence tomography, stargardt's disease
Trans. Vis. Sci. Tech.. 2023; 12(5):2. https://doi.org/10.1167/tvst.12.5.2

Includes: Supplemental Content

Retina April 2023

Insights Into PROM1 -Macular Disease Using Multimodal Imaging

PDF

Maarjaliis Paavo; Winston Lee; Rait Parmann; Jose Ronaldo Lima de Carvalho, Jr.; Jana Zernant; Stephen H. Tsang; Rando Allikmets; Janet R. Sparrow
TAGS: eye, multimodal imaging, retinal imaging, spectral domain-optical coherence tomography, macula lutea
Invest. Ophthalmol. Vis. Sci.. 2023; 64(4):27. https://doi.org/10.1167/iovs.64.4.27

Includes: Multimedia, Supplemental Content

Retina March 2023

Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes

PDF

Masha Kolesnikova; Jose Ronaldo Lima de Carvalho, Jr.; Jin Kyun Oh; Megan Soucy; Aykut Demirkol; Angela H. Kim; Stephen H. Tsang; Mark P. Breazzano
TAGS: cohort studies, diagnostic imaging, electrophysiology, genes, genotype, phenotype, retinal diseases, neurologic manifestations
Invest. Ophthalmol. Vis. Sci.. 2023; 64(3):23. https://doi.org/10.1167/iovs.64.3.23

Retina July 2022

Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures

PDF

Rait Parmann; Vivienne C. Greenstein; Stephen H. Tsang; Janet R. Sparrow
TAGS: choroideremia, perimetry, eye, mosaicism, diagnostic imaging, atrophy, spectral domain-optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2022; 63(8):4. https://doi.org/10.1167/iovs.63.8.4

Includes: Supplemental Content

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Novel Luminal Domain ATF6 Mutations Identified in Achromatopsia Patients

Bisretinoid Lipofuscin accumulation in IPSC-RPE cells

Preliminary Data Demonstrates That Genotype Predicts Viability for Optogenetic Therapy

Natural History of MAK -Associated Retinitis Pigmentosa

Primary cilia defects in patient iPSC-RPE lead to mitochondrial changes potentially contributing to ciliopathy-mediated retinal degeneration

Recurrent inherited and de novo variants in U4 and U6 snRNAs underlie retinitis pigmentosa in 58 families

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Gildeuretinol Enables the Vitamin A Cycle

Mitochondrial dysfunction in retinal degeneration-a pilot study based on the model of inherited optic atrophy- A Novel Mouse Model for Autosomal Dominant Optic Atrophy

Implications and Considerations for Gene Therapy in a Novel no-b-wave Mouse Model Resembling Congenital Stationary Night Blindness (CSNB)

Natural history of DHDDS-associated Retinitis Pigmentosa 59

Genotype is a Significant Factor in Determining the Measurability of Atrophic Lesions in ABCA4 disease

New trans -modifier genes in the most common monogenic eye disorder, ABCA4/Stargardt disease.

Development of a Prime Editing Strategy to Treat Mutations in the Crumbs Homologue 1 ( CRB1 ) Gene

Prime Editing Rescues Aberrant Splicing Defect Caused by Pathogenic Variants in PRPH2

Development of a Gene Augmentation Strategy for CRB1 -mediated Inherited Retinal Diseases

Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence

Insights Into PROM1 -Macular Disease Using Multimodal Imaging

Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes

Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures

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