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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: 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

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:

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:

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: mutation, albinism, melanins, eye, mice, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2459-2469. doi: 10.1167/iovs.18-24213

Includes: Supplemental Content

Retina October 2017

A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease

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Vivienne C. Greenstein; Jason Nunez; Winston Lee; Kaspar Schuerch; Brad Fortune; Stephen H. Tsang; Rando Allikmets; Janet R. Sparrow; Donald C. Hood
TAGS: face, stargardt's disease, optical coherence tomography, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2017; 58(12):5227-5236. doi: 10.1167/iovs.17-22532

ARVO Annual Meeting Abstract June 2017

A comparison of morphological changes seen on en-face wide-field OCT imaging to short-wavelength fundus autofluorescence imaging in Stargardt disease

Vivienne C Greenstein; Jason Nunez; Kasper Schurch; Winston Lee; Juan Reynaud; Brad Fortune; Rando Allikmets; Donald Hood

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1856. 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 June 2017

In patients with bilateral central drusen, a one time, uniocular, peripheral retinal laser treatment over a 10 year period delayed the onset of AAMD and preserved binocular visual acuity

Danny H.- Kauffmann Jokl; Theodore Smith; Rando Allikmets; Sankha Amarakoon; Suzanne Yzer; Jan van Meurs

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2322. doi:

ARVO Annual Meeting Abstract June 2017

Mutations in spliceosome-associated protein homolog CWC27 lead to a spectrum of syndromic and nonsydromic retinal degeneration disease

Rui Chen; mingchu xu; Yajing Xie; Hana Abouzeid; Christopher Gordon; Alessia Fiorentino; Zixi Sun; Anna Lehman; Carmen Ayuso; Alison J Hardcastle; Ruifang Sui; Rando Allikmets; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3818. doi:

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

Longitudinal Analysis of Quantitative Autofluorescence in Recessive Stargardt Disease (STGD1)

Kaspar Schuerch; Winston Lee; Tobias Duncker; Francois C Delori; Rando Allikmets; Stephen H Tsang; Janet R Sparrow

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4651. doi:

Retina May 2017

Associations Between β-Peripapillary Atrophy and Reticular Pseudodrusen in Early Age-Related Macular Degeneration

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Aakriti Garg; Dana M. Blumberg; Lama A. Al-Aswad; Maris Oll; Suzanne Yzer; Max Forbes; Rando L. Allikmets; Srilaxmi Bearelly
TAGS: glaucoma, atrophy, diagnostic imaging, eye, age-related macular degeneration
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2810-2815. doi: 10.1167/iovs.16-20343

Retina March 2017

Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa

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Kaspar Schuerch; Russell L. Woods; Winston Lee; Tobias Duncker; François C. Delori; Rando Allikmets; Stephen H. Tsang; Janet R. Sparrow
TAGS: retinitis pigmentosa, eye, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2017; 58(3):1843-1855. doi: 10.1167/iovs.16-21302

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Localization and Functional Analysis of ABCA4 Variants Associated with Stargardt Disease

Laurie L Molday; Rando Allikmets; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3191. doi:

ARVO Annual Meeting Abstract September 2016

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Galuh D.N. Astuti; Tamar Ben-Yosef; Susanne Kohl; Rando Allikmets; Graeme C.M. Black; Shomi S Bhattacharya; Christian P Hamel; M Imran Khan; Lonneke Haer-Wigman; Frans P Cremers

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

ARVO Annual Meeting Abstract September 2016

Analysis of longitudinal changes of the outer retina in early and intermediate age-related macular degeneration

Fan Jiang; Winston Lee; Rando Allikmets; Stanley Chang; Donald Charles Hood; Vivienne C. Greenstein

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):51. 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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Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

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

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

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

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

A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease

A comparison of morphological changes seen on en-face wide-field OCT imaging to short-wavelength fundus autofluorescence imaging in 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

In patients with bilateral central drusen, a one time, uniocular, peripheral retinal laser treatment over a 10 year period delayed the onset of AAMD and preserved binocular visual acuity

Mutations in spliceosome-associated protein homolog CWC27 lead to a spectrum of syndromic and nonsydromic retinal degeneration disease

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

Longitudinal Analysis of Quantitative Autofluorescence in Recessive Stargardt Disease (STGD1)

Associations Between β-Peripapillary Atrophy and Reticular Pseudodrusen in Early Age-Related Macular Degeneration

Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa

Localization and Functional Analysis of ABCA4 Variants Associated with Stargardt Disease

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Analysis of longitudinal changes of the outer retina in early and intermediate age-related macular degeneration

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

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