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Retina October 2019

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

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Esmee H. Runhart; Dyon Valkenburg; Stéphanie S. Cornelis; Mubeen Khan; Riccardo Sangermano; Silvia Albert; Nathalie M. Bax; Galuh D. N. Astuti; Christian Gilissen; Jan-Willem R. Pott; Joke B. G. M. Verheij; Ellen A. W. Blokland; Frans P. M. Cremers; L. Ingeborgh van den Born; Carel B. Hoyng
TAGS: alleles, introns, penetrance, genetic, stargardt's disease, cohort studies, photoreceptors, age of onset, stem cells
Invest. Ophthalmol. Vis. Sci.. 2019; 60(13):4249-4256. doi: https://doi.org/10.1167/iovs.19-27524

Includes: Supplemental Content

Retina August 2019

Foveal Sparing in Central Retinal Dystrophies

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Nathalie M. Bax; Dyon Valkenburg; Stanley Lambertus; B. Jeroen Klevering; Camiel J. F. Boon; Frank G. Holz; Frans P. M. Cremers; Monika Fleckenstein; Carel B. Hoyng; Moritz Lindner; for the Foveal Sparing Atrophy Study Team (FAST)
TAGS: atrophy, eye, fovea centralis, respiratory distress syndrome, newborn, retinal dystrophies, atrophic condition of skin, spectral domain-optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3456-3467. doi: https://doi.org/10.1167/iovs.18-26533

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Mild deep-intronic ABCA4 variants explain genetically unsolved cases of very late-onset Stargardt disease

E.H. Henrike Runhart; Dyon Valkenburg; Stephanie Cornelis; Mubeen Khan; Riccardo Sangermano; Galuh D.N. Astuti; Silvia Albert; nathalie m bax; Jan-Willem R. Pott; Joke B.G.M. Verheij; Ellen A.W. Blokland; Frans P Cremers; L. Ingeborgh van den Born; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1338. doi:

ARVO Annual Meeting Abstract July 2019

Familial discordance in disease phenotype in siblings with Stargardt disease

Dyon Valkenburg; Esmee Runhart; Bart Liefers; stanley lambertus; Clara I Sanchez; Frans P Cremers; nathalie m bax; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5015. doi:

Genetics July 2018

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

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Esmee H. Runhart; Riccardo Sangermano; Stéphanie S. Cornelis; Joke B. G. M. Verheij; Astrid S. Plomp; Camiel J. F. Boon; Dorien Lugtenberg; Susanne Roosing; Nathalie M. Bax; Ellen A. W. Blokland; Marlie H. M. Jacobs-Camps; Saskia D. van der Velde-Visser; Jan-Willem R. Pott; Klaus Rohrschneider; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; L. Ingeborgh van den Born; Carel B. Hoyng; Frans P. M. Cremers
TAGS: penetrance, genetic, stargardt's disease, proband, alleles, age of onset
Invest. Ophthalmol. Vis. Sci.. 2018; 59(8):3220-3231. doi: https://doi.org/10.1167/iovs.18-23881

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Insensitive short-term clinical trial endpoint in Stargardt disease: progression of best-corrected visual acuity

Sanne Kirsten Verbakel; Stanley Lambertus; Nathalie Bax; Dyon Valkenburg; Ramon van Huet; Joannes Groenewoud; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2014. 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

Differential progression of Stargardt disease between young infancy and late adulthood.

Dyon Valkenburg; Stanley Lambertus; Nathalie Bax; Joannes Groenewoud; Gert Jan van der wilt; Jeroen Klevering; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1486. doi:

ARVO Annual Meeting Abstract June 2017

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Ana Fakin; Valentina Cipriani; Stanley Lambertus; Nathalie Bax; Anthony G Robson; Kaoru Fujinami; John Chiang; Anthony T Moore; Michel Michaelides; Graham E Holder; Carel C B Hoyng; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3423. doi:

Retina February 2017

Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease

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Moritz Lindner; Stanley Lambertus; Matthias M. Mauschitz; Nathalie M. Bax; Eveline Kersten; Anna Lüning; Jennifer Nadal; Steffen Schmitz-Valckenberg; Matthias Schmid; Frank G. Holz; Carel B. Hoyng; Monika Fleckenstein; for the Foveal sparing Atrophy Study Team (FAST)
TAGS: age-related macular degeneration, nonexudative, atrophy, disease progression, stargardt's disease, eye, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2017; 58(2):1001-1007. doi: https://doi.org/10.1167/iovs.16-20980

Retina December 2016

Asymmetric Inter-Eye Progression in Stargardt Disease

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Stanley Lambertus; Nathalie M. Bax; Joannes M. M. Groenewoud; Frans P. M. Cremers; Gert Jan van der Wilt; B. Jeroen Klevering; Thomas Theelen; Carel B. Hoyng
TAGS: atrophy, eye, stargardt's disease
Invest. Ophthalmol. Vis. Sci.. 2016; 57(15):6824-6830. doi: https://doi.org/10.1167/iovs.16-20963

Includes: Supplemental Content

Retina October 2016

Progression of Late-Onset Stargardt Disease

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Stanley Lambertus; Moritz Lindner; Nathalie M. Bax; Matthias M. Mauschitz; Jennifer Nadal; Matthias Schmid; Steffen Schmitz-Valckenberg; Anneke I. den Hollander; Bernhard H. F. Weber; Frank G. Holz; Gert Jan van der Wilt; Monika Fleckenstein; Carel B. Hoyng; for the Foveal sparing Atrophy Study Team (FAST)
TAGS: atrophy, cohort studies, eye, stargardt's disease, visual acuity, diagnostic imaging, sample size
Invest. Ophthalmol. Vis. Sci.. 2016; 57(13):5186-5191. doi: https://doi.org/10.1167/iovs.16-19833

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Progression of late-onset Stargardt disease

Stanley Lambertus; Moritz Lindner; Nathalie Bax; Matthias Marten Mauschitz; Matthias Schmid; Steffen Schmitz-Valckenberg; Bernhard HF Weber; Frank G Holz; Gert Jan van der Wilt; Monika Fleckenstein; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2693. doi:

ARVO Annual Meeting Abstract September 2016

Clinical and genetic characteristics of intermediate-onset Stargardt disease.

Nathalie Bax; Stanley Lambertus; Cecile van der Poort; B. Jeroen Klevering; Frans P Cremers; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2686. doi:

ARVO Annual Meeting Abstract September 2016

Identification and validation of intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Silvia Albert; Riccardo Sangermano; Nathalie Bax; Miriam Bauwens; Ingeborgh Van Den Born; Elfride De Baere; Alejandro Garanto; Rob Collin; Carel C B Hoyng; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6590. doi:

ARVO Annual Meeting Abstract June 2015

Towards the identification of deep-intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Silvia Albert; Riccardo Sangermano; Nathalie Bax; Susanne Roosing; L. I. van den Born; Anke den Engelsman-van Dijk; Angelique Ramlal; Edwin M Stone; Carel C B Hoyng; Frans Cremers

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3174. doi:

ARVO Annual Meeting Abstract June 2015

Asymmetric inter-eye progression in Stargardt disease

Stanley Lambertus; Nathalie Bax; Gert Jan van der Wilt; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3825. doi:

ARVO Annual Meeting Abstract June 2015

The burden of disease in Stargardt patients.

Nathalie Bax; Stanley Lambertus; L. Ye; PJM van den Wittenboer; B. Jeroen Klevering; CM Verhaak; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):500. doi:

ARVO Annual Meeting Abstract June 2015

Automatic quantification of geographic atrophy in autofluorescence images of Stargardt patients

Clara I Sanchez; Stanley Lambertus; Bart Bloemen; Nathalie Bax; Freerk Gerhard Venhuizen; Mark J J P Van Grinsven; Bram van Ginneken; Thomas Theelen; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5258. doi:

Retina November 2014

Foveal Sparing in Stargardt Disease

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Ramon A. C. van Huet; Nathalie M. Bax; Sarah C. Westeneng-Van Haaften; Muhamad Muhamad; Marijke N. Zonneveld-Vrieling; Lies H. Hoefsloot; Frans P. M. Cremers; Camiel J. F. Boon; B. Jeroen Klevering; Carel B. Hoyng
TAGS: atrophy, fovea centralis, stargardt's disease, mutation, eye, retina, visual acuity, atrophic condition of skin, parafoveal region
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7467-7478. doi: https://doi.org/10.1167/iovs.13-13825

Includes: Supplemental Content

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Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

Foveal Sparing in Central Retinal Dystrophies

Mild deep-intronic ABCA4 variants explain genetically unsolved cases of very late-onset Stargardt disease

Familial discordance in disease phenotype in siblings with Stargardt disease

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

Insensitive short-term clinical trial endpoint in Stargardt disease: progression of best-corrected visual acuity

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

Differential progression of Stargardt disease between young infancy and late adulthood.

Complex interaction and Hardy-Weinberg disequilibrium of ABCA4 disease-causing alleles provides insights into the pathogenesis of retinopathy

Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease

Asymmetric Inter-Eye Progression in Stargardt Disease

Progression of Late-Onset Stargardt Disease

Progression of late-onset Stargardt disease

Clinical and genetic characteristics of intermediate-onset Stargardt disease.

Identification and validation of intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Towards the identification of deep-intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Asymmetric inter-eye progression in Stargardt disease

The burden of disease in Stargardt patients.

Automatic quantification of geographic atrophy in autofluorescence images of Stargardt patients

Foveal Sparing in Stargardt Disease

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