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Journal Articles (7)
Meeting Abstract (4)

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Investigative Ophthalmology & Visual Science (11)

Article Type

Retina (6)
ARVO Annual Meeting Abstract (4)
Genetics (1)

Topics

Eye Anatomy and Disorders (6)
Retina (6)
Genetics (4)
Low Vision (1)

Tags

atrophy (5)
eye (5)
stargardt's disease (5)
visual acuity (3)
atrophic condition of skin (2)
cohort studies (2)
fovea centralis (2)
age of onset (1)
age-related macular degeneration, nonexudative (1)
alleles (1)

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Showing 1 – 11 of 11

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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: https://doi.org/

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: https://doi.org/

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

Invest. Ophthalmol. Vis. Sci.. 2018; 59(8):3220-3231. doi: https://doi.org/10.1167/iovs.18-23881

Includes: Supplemental Content

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: atrophy, disease progression, visual acuity, eye, stargardt's disease, age-related macular degeneration, nonexudative
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

PDF

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: sample size, atrophy, cohort studies, visual acuity, diagnostic imaging, eye, stargardt's disease, retinal pigment epithelium
Invest. Ophthalmol. Vis. Sci.. 2016; 57(13):5186-5191. doi: https://doi.org/10.1167/iovs.16-19833

Includes: Supplemental Content

Retina November 2014

Foveal Sparing in Stargardt Disease

PDF

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: mutation, atrophy, fovea centralis, visual acuity, eye, retina, atrophic condition of skin, stargardt's disease, parafoveal region
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7467-7478. doi: https://doi.org/10.1167/iovs.13-13825

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Analysis of ABCA4- related retinal dystrophies without fundus abnormalities.

Nathalie Martine Bax; Stanley Lambertus; Ramon A Huet; Frans P Cremers; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3251. doi: https://doi.org/

ARVO Annual Meeting Abstract April 2014

The natural progression of early-onset Stargardt disease

Stanley Lambertus; Ramon A Huet; Nathalie Martine Bax; Ellen van den Wittenboer; Frans P Cremers; Camiel J F Boon; B Jeroen Klevering; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1425. doi: https://doi.org/

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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