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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

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

ARVO Annual Meeting Abstract June 2022

A common haplotype in the PRPH2 gene modifies Stargardt/ABCA4 disease.

Jana Zernant; Winston Lee; Jun Wang; KERRY GOETZ; Ehsan Ullah; Takayuki Nagasaki; PEI-YIN SU; Gerald A Fishman; Stephen H Tsang; Santa J Tumminia; Brian Brooks; Robert B Hufnagel; Rui Chen; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1596 – A0385.

ARVO Annual Meeting Abstract June 2022

Vitelliform foveomacular lesions in ABCA4 disease: A phenotypic expansion and longitudinal study

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

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3752 – F0173.

ARVO Annual Meeting Abstract June 2022

Identifying critical diagnostic features that distinguish ABCA4 disease from its Mendelian phenocopies

Winston Lee; Jana Zernant; Takayuki Nagasaki; Stephen H Tsang; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3745 – F0166.

Articles January 2022

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4 -Associated Disease

PDF

Rait Parmann; Stephen H. Tsang; Jana Zernant; Rando Allikmets; Vivienne C. Greenstein; Janet R. Sparrow
TAGS: abca4 gene, atrophy, fundus autofluorescence imaging, optical coherence tomography, spectral domain-optical coherence tomography
Trans. Vis. Sci. Tech.. 2022; 11(1):36. https://doi.org/10.1167/tvst.11.1.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Shared Features in Retinal Diseases with Primary Involvement of Retinal Pigment Epithelium

Rait Parmann; Ruben Jauregui; Rando Allikmets; Stanley Chang; Stephen H Tsang; Janet R Sparrow

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1904.

ARVO Annual Meeting Abstract June 2021

Telegenetics for Inherited Retinal Diseases during the COVID-19 pandemic

Aarushi Kumar; Ahmad Al Moujahed; Teja Chemudupati; Stephen H. Tsang; Vinit B Mahajan

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1549.

ARVO Annual Meeting Abstract June 2021

Progression of Retinitis Pigmentosa Associated with Ciliary and Non-Ciliary Genetic Etiologies

Amanda Zhou; Jin Kyun Oh; Stephen H. Tsang

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1530.

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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

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

A common haplotype in the PRPH2 gene modifies Stargardt/ABCA4 disease.

Vitelliform foveomacular lesions in ABCA4 disease: A phenotypic expansion and longitudinal study

Identifying critical diagnostic features that distinguish ABCA4 disease from its Mendelian phenocopies

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4 -Associated Disease

Shared Features in Retinal Diseases with Primary Involvement of Retinal Pigment Epithelium

Telegenetics for Inherited Retinal Diseases during the COVID-19 pandemic

Progression of Retinitis Pigmentosa Associated with Ciliary and Non-Ciliary Genetic Etiologies

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