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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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi: 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. doi:

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. doi:

Retina April 2020

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

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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. doi: 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

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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. doi: https://doi.org/10.1167/iovs.19-27366

Includes: Supplemental Content

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. doi:

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. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract July 2019

Quantitative Fundus Autofluorescence in PROM1-Macular Dystrophy

Maarjaliis Paavo; Winston Lee; Jose R. Carvalho-Jr; Stephen Tsang; Rando Allikmets; Janet Sparrow

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5025. doi:

ARVO Annual Meeting Abstract July 2019

Multimodal imaging and electroretinography analysis of end-stage presentations of X-linked retinoschisis

Jesse D Sengillo; Winston Lee; Ruben Jauregui; Stephen H Tsang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5422. doi:

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. doi:

Letters to the Editor November 2018

Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

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Rando Allikmets; Jana Zernant; Winston Lee
TAGS: alleles, penetrance, genetic, stargardt's disease
Invest. Ophthalmol. Vis. Sci.. 2018; 59(13):5564-5565. doi: https://doi.org/10.1167/iovs.18-25579

ARVO Annual Meeting Abstract July 2018

Near-infrared Autofluoresence Imaging in Choroideremia

Maarjaliis Paavo; Winston Lee; Jesse Sengillo; Stephen H Tsang; Janet R Sparrow

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4664. doi:

ARVO Annual Meeting Abstract July 2018

Systemic PDE 5/6 treatment of macular disease and dystrophy – long term vision and OCT results

D Jackson Coleman; Winston Lee; Stanley Chang; Suzanne Daly; Harriet O Lloyd; Stephen H Tsang

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):69. doi:

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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

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

Quantitative Fundus Autofluorescence in PROM1-Macular Dystrophy

Multimodal imaging and electroretinography analysis of end-stage presentations of X-linked retinoschisis

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

Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

Near-infrared Autofluoresence Imaging in Choroideremia

Systemic PDE 5/6 treatment of macular disease and dystrophy – long term vision and OCT results

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