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Articles January 2022

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

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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. doi: https://doi.org/10.1167/tvst.11.1.36

Includes: Supplemental Content

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:

Articles January 2021

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence

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Ruben Jauregui; Yan Nuzbrokh; Pei-Yin Su; Jana Zernant; Rando Allikmets; Stephen H. Tsang; Janet R. Sparrow
TAGS: autofluorescence, chorioretinal atrophy, hypertrophy, retinal pigment epithelium atrophy, stargardt's disease, atrophy, diagnostic imaging, phenotype
Trans. Vis. Sci. Tech.. 2021; 10(1):3. doi: https://doi.org/10.1167/tvst.10.1.3

Includes: Supplemental Content

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

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

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

MacTel patients carry rare phosphoglycerate dehydrogenase (PHGDH) variants with reduced enzymatic activity

Regis Fallon; Rebecca Berlow; Jana Zernant; Takayuki Nagasaki; Marin Gantner; Sarah Harkins-Perry; Kevin Eade; Rando Allikmets; Martin Friedlander

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5994. 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:

Genetics May 2019

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy

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Frederick T. Collison; Gerald A. Fishman; Takayuki Nagasaki; Jana Zernant; J. Jason McAnany; Jason C. Park; Rando Allikmets
TAGS: autosomal recessive inheritance, diagnostic imaging, electroretinography, progressive cone-rod dystrophy, retinitis pigmentosa, family, spectral domain-optical coherence tomography, autofluorescence, color, genetic analysis
Invest. Ophthalmol. Vis. Sci.. 2019; 60(6):2347-2356. doi: https://doi.org/10.1167/iovs.19-26993

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

Regions of Disease Sparing Spatially Correlate with Choroidal Thinning in ABCA4 Disease

Winston Lee; Maarjaliis Paavo; Jana Zernant; Stephen H. Tsang; Janet R Sparrow; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):787. doi:

ARVO Annual Meeting Abstract July 2018

Rare variants in the phosphoglycerate dehydrogenase (PHGDH) gene in MacTel patients lead to decreased enzymatic activity

Regis Fallon; Jana Zernant; Takayuki Nagasaki; Marin Gantner; sarah harkins-perry; Kevin Eade; Rando Allikmets; Martin Friedlander

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5409. doi:

Retina May 2018

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence

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Maarjaliis Paavo; Jin Zhao; Hye Jin Kim; Winston Lee; Jana Zernant; Carolyn Cai; Rando Allikmets; Stephen H. Tsang; Janet R. Sparrow
TAGS: fundus autofluorescence imaging, melanins, mice, mutation, eye, albinism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2459-2469. doi: https://doi.org/10.1167/iovs.18-24213

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

The Rapid-Onset Chorioretinopathy (ROC) Phenotype of Stargardt Disease

Winston Lee; kohji tanaka; Jana Zernant; Kaspar Schuerch; Lyam Ciccone; Stephen Tsang; Janet R Sparrow; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4642. doi:

ARVO Annual Meeting Abstract June 2017

Frequent hypomorphic alleles solve 80% of late-onset ABCA4 disease and distinguish it from age-related macular degeneration

Rando Allikmets; Jana Zernant; Frederick T Collison; Gerald A Fishman; Yuri V Sergeev; Kaspar Schuerch; Janet R Sparrow; Stephen Tsang; Winston Lee

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1240. doi:

ARVO Annual Meeting Abstract June 2017

In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 Stargardt disease and cone-rod dystrophy cases

Frans P Cremers; Stephanie Cornelis; Nathalie Bax; Jana Zernant; Rando Allikmets; Andreas Fritsche; Johan den Dunnen; Muhammad Ajmal; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1241. doi:

ARVO Annual Meeting Abstract September 2016

Stargardt Disease Expression on a Background of Low Lipofuscin: The Impact of the p.G1961E Mutation of ABCA4

Winston Lee; Kalev Noupuu; Jana Zernant; Kaspar Schuerch; Peter Gouras; Stephen H. Tsang; Janet R Sparrow; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2689. doi:

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

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

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence

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

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

Analysis of ABCA4 mutation spectrum in Stargardt/ABCA4 disease

MacTel patients carry rare phosphoglycerate dehydrogenase (PHGDH) variants with reduced enzymatic activity

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

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy

Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

Regions of Disease Sparing Spatially Correlate with Choroidal Thinning in ABCA4 Disease

Rare variants in the phosphoglycerate dehydrogenase (PHGDH) gene in MacTel patients lead to decreased enzymatic activity

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence

The Rapid-Onset Chorioretinopathy (ROC) Phenotype of Stargardt Disease

Frequent hypomorphic alleles solve 80% of late-onset ABCA4 disease and distinguish it from age-related macular degeneration

In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 Stargardt disease and cone-rod dystrophy cases

Stargardt Disease Expression on a Background of Low Lipofuscin: The Impact of the p.G1961E Mutation of ABCA4

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