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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 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.

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

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.

ARVO Annual Meeting Abstract June 2021

Clinical and Genetics Characterization of Hypomorphic Variants in Stargardt disease

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

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2171.

ARVO Annual Meeting Abstract June 2021

Characterization of Stargardt disease patient-derived human retinal organoids harboring the p.Gly1961Glu mutation in the ABCA4 gene

PEI-YIN SU; Jen-Zen Chuang; Winston Lee; Jana Zernant; Stephen H Tsang; Takayuki Nagasaki; Ching-Hwa Sung; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2595.

Retina September 2020

Quantitative Fundus Autofluorescence in HCQ Retinopathy

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Vivienne C. Greenstein; Jose Ronaldo Lima de Carvalho, Jr.; Rait Parmann; Luz Amaro-Quireza; Winston Lee; Donald C. Hood; Stephen H. Tsang; Janet R. Sparrow
TAGS: fundus autofluorescence imaging, retinal diseases, spectral domain-optical coherence tomography, visual fields, eye
Invest. Ophthalmol. Vis. Sci.. 2020; 61(11):41. https://doi.org/10.1167/iovs.61.11.41

ARVO Annual Meeting Abstract June 2020

Clinical Characterization of an Extremely Mild, Late-Onset Phenotype of ABCA4 Disease

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

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1051.

ARVO Annual Meeting Abstract June 2020

Do Mutations in ABCA4 Really Cause Retinitis Pigmentosa?

Winston Lee; Jana Zernant; Stephen Tsang; Janet R Sparrow; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1052.

Retina April 2020

Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy

PDF

Ruben Jauregui; Ahra Cho; Winston Lee; Jana Zernant; Rando Allikmets; Janet R. Sparrow; Stephen H. Tsang
TAGS: abca4 gene, atrophy, chief complaint, impairment, macular disorders, retinal pigment epithelium atrophy, diagnostic imaging
Invest. Ophthalmol. Vis. Sci.. 2020; 61(4):13. https://doi.org/10.1167/iovs.61.4.13

Includes: Supplemental Content

Retina September 2019

Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers

PDF

Maarjaliis Paavo; Jose R. L. Carvalho, Jr; Winston Lee; Jesse D. Sengillo; Stephen H. Tsang; Janet R. Sparrow
TAGS: choroideremia, eye, fundus autofluorescence imaging, multimodal imaging, proband, spectral domain-optical coherence tomography, diagnostic imaging, visual acuity, choroid, retina
Invest. Ophthalmol. Vis. Sci.. 2019; 60(12):3752-3761. https://doi.org/10.1167/iovs.19-27366

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Genotype-Phenotype Correlations in Stargardt/ABCA4 Disease Patients of Advanced Age

Winston Lee; Jana Zernant; Stephen Tsang; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1337.

ARVO Annual Meeting Abstract July 2019

Case-control collapsing analysis identifies genes mimicking Stargardt/ABCA4 disease

Chu Jian Ma; Charles Wolock; Nicholas Stong; Takayuki Nagasaki; Winston Lee; David Goldstein; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2935.

ARVO Annual Meeting Abstract July 2019

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Yuri V Sergeev; Kaoru Fujinami; Benedetto Falsini; Wadih M Zein; Kerry Goetz; Yu Yokokawa Fujinami; Se Joon Woo; Shiying Li; Matteo Bertelli; Winston Lee; Jana Zernant; Rando Allikmets; Andrew Webster; Michel Michaelides; Brian Patrick Brooks; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3872.

ARVO Annual Meeting Abstract July 2019

Multimodal Imaging in Best Vitelliform Macular Dystrophy

Jose R. Carvalho-Jr; Winston Lee; Maarjaliis Paavo; Karen Sophia Park; Lijuan Chen; Stephen Tsang; Janet R Sparrow

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5013.

ARVO Annual Meeting Abstract July 2019

Analysis of ABCA4 mutation spectrum in Stargardt/ABCA4 disease

Jana Zernant; Winston Lee; Fred Collison; Gerald A Fishman; Stephen Tsang; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5016.

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

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.

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

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

Clinical and Genetics Characterization of Hypomorphic Variants in Stargardt disease

Characterization of Stargardt disease patient-derived human retinal organoids harboring the p.Gly1961Glu mutation in the ABCA4 gene

Quantitative Fundus Autofluorescence in HCQ Retinopathy

Clinical Characterization of an Extremely Mild, Late-Onset Phenotype of ABCA4 Disease

Do Mutations in ABCA4 Really Cause Retinitis Pigmentosa?

Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy

Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers

Genotype-Phenotype Correlations in Stargardt/ABCA4 Disease Patients of Advanced Age

Case-control collapsing analysis identifies genes mimicking Stargardt/ABCA4 disease

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Multimodal Imaging in Best Vitelliform Macular Dystrophy

Analysis of ABCA4 mutation spectrum in Stargardt/ABCA4 disease

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