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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: atrophy, chief complaint, impairment, macular disorders, retinal pigment epithelium, 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

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:

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:

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

Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

Alex Garanto; Riccardo Sangermano; Silvia Albert; Mubeen Khan; Miriam Bauwens; Sarah Naessens; Rando Allikmets; Ingeborgh Born; Carel C B Hoyng; Elfride De Baere; Frans P Cremers; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4532. 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:

ARVO Annual Meeting Abstract July 2018

Measuring Short Wavelength and Near Infrared Fundus Autofluorescence in the presence of ABCA4 Mutations and Albinism

Janet R Sparrow; Maarjaliis Paavo; Hye Jin Kim; Jin Zhao; Winston Lee; Rando Allikmets; Stephen H Tsang

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5856. 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

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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

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

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

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

Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

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

Measuring Short Wavelength and Near Infrared Fundus Autofluorescence in the presence of ABCA4 Mutations and Albinism

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

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