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Retina September 2023

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

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Jana Sajovic; Andrej Meglič; Zelia Corradi; Mubeen Khan; Aleš Maver; Martina Jarc Vidmar; Marko Hawlina; Frans P. M. Cremers; Ana Fakin
TAGS: abca4 gene, alleles, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):33. https://doi.org/10.1167/iovs.64.12.33

Includes: Supplemental Content

Genetics May 2022

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

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Irene Vázquez-Domínguez; Catherina H. Z. Li; Zeinab Fadaie; Lonneke Haer-Wigman; Frans P. M. Cremers; Alejandro Garanto; Carel B. Hoyng; Susanne Roosing
TAGS: adult, alleles, persistent postconcussive syndrome, postpolypectomy coagulation syndrome, vitelliform dystrophy, exons, rna splicing, genes
Invest. Ophthalmol. Vis. Sci.. 2022; 63(5):27. https://doi.org/10.1167/iovs.63.5.27

Includes: Supplemental Content

Genetics April 2022

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

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Zelia Corradi; Manar Salameh; Mubeen Khan; Elise Héon; Ketan Mishra; Rebekkah J. Hitti-Malin; Yahya AlSwaiti; Alice Aslanian; Eyal Banin; Brian P. Brooks; Wadih M. Zein; Robert B. Hufnagel; Susanne Roosing; Claire‐Marie Dhaenens; Dror Sharon; Frans P. M. Cremers; Alaa AlTalbishi
TAGS: abca4 gene, introns, mutation, stargardt's disease, proband, rna splicing, exons
Invest. Ophthalmol. Vis. Sci.. 2022; 63(4):20. https://doi.org/10.1167/iovs.63.4.20

Includes: Supplemental Content

Articles December 2019

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

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Krunoslav T. Stingl; Laura Kuehlewein; Nicole Weisschuh; Saskia Biskup; Frans P. M. Cremers; M. Imran Khan; Carina Kelbsch; Tobias Peters; Marius Ueffing; Barbara Wilhelm; Eberhart Zrenner; Katarina Stingl
TAGS: eye, illness length, mutation, pupil reaction, retinitis pigmentosa
Trans. Vis. Sci. Tech.. 2019; 8(6):45. https://doi.org/10.1167/tvst.8.6.45

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. 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. https://doi.org/10.1167/iovs.18-26533

Includes: Supplemental Content

Letters to the Editor November 2018

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

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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

Retina August 2018

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

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Mays Talib; Mary J. van Schooneveld; Caroline Van Cauwenbergh; Jan Wijnholds; Jacoline B. ten Brink; Ralph J. Florijn; Nicoline E. Schalij-Delfos; Gislin Dagnelie; Maria M. van Genderen; Elfride De Baere; Magda A. Meester-Smoor; Julie De Zaeytijd; Frans P. M. Cremers; L. Ingeborgh van den Born; Alberta A. Thiadens; Carel B. Hoyng; Caroline C. Klaver; Bart P. Leroy; Arthur A. Bergen; Camiel J. F. Boon
TAGS: genes, heterozygote, phenotype, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4123-4133. https://doi.org/10.1167/iovs.17-23453

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

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

Includes: Supplemental Content

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. https://doi.org/10.1167/iovs.16-20963

Includes: Supplemental Content

Genetics November 2016

Mutations in AGBL5 , Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

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Galuh D. N. Astuti; Gavin Arno; Sarah Hull; Laurence Pierrache; Hanka Venselaar; Keren Carss; F. Lucy Raymond; Rob W. J. Collin; Sultana M. H. Faradz; L. Ingeborgh van den Born; Andrew R. Webster; Frans P. M. Cremers
TAGS: autosomal recessive inheritance, mutation, retinitis pigmentosa, tubulin, family, genes, proteins
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6180-6187. https://doi.org/10.1167/iovs.16-20148

Genetics September 2016

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1

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Gavin Arno; Sarah Hull; Keren Carss; Arundhati Dev-Borman; Christina Chakarova; Kinga Bujakowska; L. Ingeborgh van den Born; Anthony G. Robson; Graham E. Holder; Michel Michaelides; Frans P. M. Cremers; Eric Pierce; F. Lucy Raymond; Anthony T. Moore; Andrew R. Webster
TAGS: alleles, mutation, retinal dystrophies, homozygote
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4806-4813. https://doi.org/10.1167/iovs.16-19687

Includes: Supplemental Content

Genetics May 2016

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

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Ajoy Vincent; Judith Ng; Christina Gerth-Kahlert; Erika Tavares; Jason T. Maynes; Thomas Wright; Amit Tiwari; Anupreet Tumber; Shuning Li; James V. M. Hanson; Angela Bahr; Heather MacDonald; Luzy Bähr; Carol Westall; Wolfgang Berger; Frans P. M. Cremers; Anneke I. den Hollander; Elise Héon
TAGS: autosomal recessive inheritance, family, genetics, mutation, phenotype, retinoschisis, eye, relationship - sibling, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(6):2637-2646. https://doi.org/10.1167/iovs.15-18281

Includes: Supplemental Content

Genetics November 2015

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

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Kristof Van Schil; B. Jeroen Klevering; Bart P. Leroy; Jan Willem R. Pott; Dikla Bandah-Rozenfeld; Marijke N. Zonneveld-Vrieling; Dror Sharon; Anneke I. den Hollander; Frans P. M. Cremers; Elfride De Baere; Rob W. J. Collin; L. Ingeborgh van den Born
TAGS: alleles, autosomal recessive inheritance, mutation, mutation, nonsense, recurrence, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2015; 56(12):7418-7426. https://doi.org/10.1167/iovs.15-17920

Includes: Supplemental Content

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. https://doi.org/10.1167/iovs.13-13825

Includes: Supplemental Content

New Developments in Vision Research November 2014

The RD5000 Database: Facilitating Clinical, Genetic, and Therapeutic Studies on Inherited Retinal Diseases

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Ramon A. C. van Huet; Clasien J. Oomen; Astrid S. Plomp; Maria M. van Genderen; B. Jeroen Klevering; Reinier O. Schlingemann; Caroline C. W. Klaver; L. Ingeborgh van den Born; Frans P. M. Cremers; the RD5000 Study Group
TAGS: genetics, retinal diseases
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7355-7360. https://doi.org/10.1167/iovs.14-15317

Includes: Supplemental Content

Genetics June 2014

IMPG2 -Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement

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Ramon A. C. van Huet; Rob W. J. Collin; Anna M. Siemiatkowska; Caroline C. W. Klaver; Carel B. Hoyng; Francesca Simonelli; Muhammad I. Khan; Raheel Qamar; Eyal Banin; Frans P. M. Cremers; Thomas Theelen; Anneke I. den Hollander; L. Ingeborgh van den Born; B. Jeroen Klevering
TAGS: atrophy, mutation, retinitis pigmentosa, eye, visual acuity, phenotype, retina, bone spicule in retina, proteins, vision
Invest. Ophthalmol. Vis. Sci.. 2014; 55(6):3939-3953. https://doi.org/10.1167/iovs.14-14129

Includes: Supplemental Content

Genetics July 2012

Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene

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Tomas R. Burke; Gerald A. Fishman; Jana Zernant; Carl Schubert; Stephen H. Tsang; R. Theodore Smith; Radha Ayyagari; Robert K. Koenekoop; Allison Umfress; Maria Laura Ciccarelli; Alfonso Baldi; Alessandro Iannaccone; Frans P. M. Cremers; Caroline C. W. Klaver; Rando Allikmets
TAGS: genes, homozygote, mutation, phenotype
Invest. Ophthalmol. Vis. Sci.. 2012; 53(8):4458-4467. https://doi.org/10.1167/iovs.11-9166

ARVO Annual Meeting Abstract March 2012

Preservation Of S-cone Function In Patients With Autosomal Recessive NRL Mutations

Patricia T. Y. Stappers; Linda Visser; Frans C. C. Riemslag; Caroline Osterholt; Maria M. van Genderen; Frans P. M. Cremers; Rob W. J. Collin; L. Ingeborgh van den Born

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4552.

Genetics June 2011

Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in the COL9A1 Gene

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Konstantinos Nikopoulos; Isabelle Schrauwen; Marleen Simon; Rob W. J. Collin; Marc Veckeneer; Kathelijn Keymolen; Guy Van Camp; Frans P. M. Cremers; L. Ingeborgh van den Born
TAGS: autosomal recessive inheritance, family, genes, mutation, stickler syndrome
Invest. Ophthalmol. Vis. Sci.. 2011; 52(7):4774-4779. https://doi.org/10.1167/iovs.10-7128

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ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

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

Foveal Sparing in Central Retinal Dystrophies

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

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

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

Asymmetric Inter-Eye Progression in Stargardt Disease

Mutations in AGBL5 , Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

Foveal Sparing in Stargardt Disease

The RD5000 Database: Facilitating Clinical, Genetic, and Therapeutic Studies on Inherited Retinal Diseases

IMPG2 -Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement

Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene

Preservation Of S-cone Function In Patients With Autosomal Recessive NRL Mutations

Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in the COL9A1 Gene

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