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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:

ARVO Annual Meeting Abstract June 2021

Uniocular peripheral retinal laser stabilizes AMD visual outcomes binocularly

Danny H.- Kauffmann Jokl; R Theodore Smith; Rando Allikmets; Sankha Amarakoon; weijia fan; mihai busuioc; Suzanne Yzer; jan van meurs

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):280. doi:

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. doi:

Perspective June 2021

Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium

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Janet R. Sparrow; Rait Parmann; Stephen H. Tsang; Rando Allikmets; Stanley Chang; Ruben Jauregui
TAGS: retinal diseases, retinal pigment epithelium, spectral domain-optical coherence tomography, mutation, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2021; 62(7):15. doi: https://doi.org/10.1167/iovs.62.7.15

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

Reduced serine synthesis in patient-derived retinal pigmented epithelium leads to localized lipid dysfunction in MacTel

Kevin Eade; sarah giles; Sarah Harkins-Perry; Regis Fallon; Marin Gantner; michelle baldini; Martina Wallace; Rando Allikmets; Christian Metallo; Martin Friedlander

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3852. 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

Characteristic ocular features in cases of autosomal recessive PROM1 cone-rod dystrophy

Frederick T Collison; Gerald A. Fishman; Takayuki Nagasaki; J Jason McAnany; Jason C Park; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4512. doi:

ARVO Annual Meeting Abstract July 2019

Choriocapillaris atrophy in ABCA4 retinopathy is secondary to retinal pigment epithelium impairment

Karen Sophia Park; Ruben Jauregui; Janet Sparrow; Rando Allikmets; Stephen H. Tsang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4569. 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

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

A longitudinal analysis of changes in en-face optical coherence tomography and fundus autofluorescence in Stargardt disease

Vivienne C Greenstein; Christine L. Xu; Stephen Tsang; Rando Allikmets; Janet Sparrow; Donald C Hood

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3447. 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:

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:

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

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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

Uniocular peripheral retinal laser stabilizes AMD visual outcomes binocularly

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

Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium

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

Reduced serine synthesis in patient-derived retinal pigmented epithelium leads to localized lipid dysfunction in MacTel

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

Characteristic ocular features in cases of autosomal recessive PROM1 cone-rod dystrophy

Choriocapillaris atrophy in ABCA4 retinopathy is secondary to retinal pigment epithelium impairment

Analysis of ABCA4 mutation spectrum in Stargardt/ABCA4 disease

Quantitative Fundus Autofluorescence in PROM1-Macular Dystrophy

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

A longitudinal analysis of changes in en-face optical coherence tomography and fundus autofluorescence in Stargardt disease

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

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

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

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