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Journal Articles (4)
Meeting Abstract (2)

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Investigative Ophthalmology & Visual Science (5)
Translational Vision Science & Technology (1)

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ARVO Annual Meeting Abstract (2)
Articles (1)
Genetics (1)
Letters to the Editor (1)
Retina (1)

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Genetics (4)
Eye Anatomy and Disorders (3)
Retina (3)
Imaging (1)
Multidisciplinary Ophthalmic Imaging (1)
Translational Research (1)

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stargardt's disease (4)
alleles (3)
penetrance, genetic (3)
age of onset (2)
autofluorescence (1)
cohort studies (1)
diagnostic imaging (1)
eye (1)
follow-up (1)
fundus autofluorescence imaging (1)

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ARVO Annual Meeting Abstract June 2023

Comprehensive study on late-onset Stargardt: disease characteristics, genetics and progression

Catherina Li; Jeroen A.A.H. Pas; Anne Hoogstede; Zelia Corradi; Rebekkah Hitti-Malin; Esmee H. Runhart; Patty P.A. Dhooge; Frans P Cremers; Rob W J Collin; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3701.

Articles March 2021

Correlation of Morphology and Function of Flecks Using Short-Wave Fundus Autofluorescence and Microperimetry in Patients With Stargardt Disease

PDF

Patty P. A. Dhooge; Esmee H. Runhart; Stanley Lambertus; Nathalie M. Bax; Johannes M. M. Groenewoud; B. Jeroen Klevering; Carel B. Hoyng
TAGS: diagnostic imaging, eye, fundus autofluorescence imaging, language morphology, morphology, stargardt's disease, autofluorescence, follow-up
Trans. Vis. Sci. Tech.. 2021; 10(3):18. https://doi.org/10.1167/tvst.10.3.18

Includes: Supplemental Content

Retina October 2019

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

PDF

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. https://doi.org/10.1167/iovs.19-27524

Includes: Supplemental Content

Letters to the Editor November 2018

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

PDF

Frans P. M. Cremers; Stéphanie S. Cornelis; Esmee H. Runhart; Galuh D. N. Astuti
TAGS: alleles, penetrance, genetic, stargardt's disease
Invest. Ophthalmol. Vis. Sci.. 2018; 59(13):5566-5568. https://doi.org/10.1167/iovs.18-25944

Includes: Supplemental Content

Genetics July 2018

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

PDF

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. https://doi.org/10.1167/iovs.18-23881

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Retinal Biomarkers for Early Alzheimer’s Disease

Aleid van de Kreeke; Esmee H Runhart; Hoang-Ton Nguyen; Elles Konijnenberg; Theodorus L Ponsioen; Pieter Jelle Visser; Frank Verbraak

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5125.

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
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