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Genetics March 2019

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

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Sanne K. Verbakel; Ramon A. C. van Huet; Anneke I. den Hollander; Maartje J. Geerlings; Eveline Kersten; B. Jeroen Klevering; Caroline C. W. Klaver; Astrid S. Plomp; Nieneke L. Wesseling; Arthur A. B. Bergen; Konstantinos Nikopoulos; Carlo Rivolta; Yasuhiro Ikeda; Koh-Hei Sonoda; Yuko Wada; Camiel J. F. Boon; Toru Nakazawa; Carel B. Hoyng; Koji M. Nishiguchi
TAGS: phenotype, mutation, family, genes, retinitis pigmentosa, genetics, age-related macular degeneration, macular dystrophy
Invest. Ophthalmol. Vis. Sci.. 2019; 60(4):1192-1203. doi: 10.1167/iovs.18-26084

Includes: Supplemental Content

Retina September 2018

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

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Dyon Valkenburg; Caroline van Cauwenbergh; Birgit Lorenz; Mies M. van Genderen; Mette Bertelsen; Jan-Willem R. Pott; Frauke Coppieters; Julie de Zaeytijd; Alberta A. H. J. Thiadens; Caroline C. W. Klaver; Hester Y. Kroes; Mary J. van Schooneveld; Markus Preising; Carel B. Hoyng; Bart P. Leroy; L. Ingeborgh van den Born; Rob W. J. Collin

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4384-4391. doi: 10.1167/iovs.18-24817

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: phenotype, genes, heterozygote, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4123-4133. doi: 10.1167/iovs.17-23453

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Whole-exome sequencing in age-related macular degeneration identifies rare protein-altering variants in COL8A1, a component of Bruch’s membrane

Anneke I Den Hollander; Jordi Corominas; Johanna Maria Colijn; Maartje Geerlings; Sascha Fauser; Eiko de Jong; Cornelia van Duijn; Carel C B Hoyng; Caroline C W Klaver

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):789. doi:

ARVO Annual Meeting Abstract July 2018

Homozygous mutations in KIAA1549 , encoding a ciliary protein, cause autosomal recessive retinitis pigmentosa.

Susanne Roosing; Suzanne E. de Bruijn; Sanne Kirsten Verbakel; Hannie Kremer; L. Ingeborgh van den Born; Carel C B Hoyng; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2321. doi:

ARVO Annual Meeting Abstract July 2018

Progression to late AMD: Role of SDOCT-biomarkers in patients with drusenoid PED

Julia Lemke; Vasilena Sitnilska; Eveline Kersten; Tina Schick; Philip Enders; Carel C B Hoyng; Anneke I Den Hollander; Sascha Fauser; Lebriz Altay

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2377. doi:

ARVO Annual Meeting Abstract July 2018

Extensive phenotyping in CRB1 -associated retinal dystrophies: defining clinical endpoints for gene therapy trials

Mays Talib; Mary van Schooneveld; Jan Wijnholds; Maria M van Genderen; N. Schalij-Delofs; Ralph Florijn; Frans P Cremers; Ingeborgh Born; Alberta A H J Thiadens; Carel C B Hoyng; Caroline C W Klaver; Arthur A Bergen; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):43. 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

Genome-wide association study underlines the role of the complement system in chronic central serous chorioretinopathy

Rosa Schellevis; Elon H. Van Dijk; Myrte Breukink; Lebriz Altay; Bjorn Bakker; Bobby Koeleman; Lambertus Kiemeney; Dorine Swinkels; Jan Keunen; Sascha Fauser; Carel C B Hoyng; Anneke I Den Hollander; Camiel Boon; Eiko de Jong

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4983. doi:

ARVO Annual Meeting Abstract July 2018

Natural History of Progression of Choroideremia (NIGHT) Study: Cross-Sectional Analysis of Baseline Characteristics

Byron L Lam; M Dominik Fischer; Mark E Pennesi; Eeva-Marja Kaarina Sankila; Frank G. Holz; Robert E MacLaren; David G Birch; Ian M MacDonald; Carel C B Hoyng; Graeme Black; Neil M Bressler; Stephen H. Tsang; Kimberly E Stepien; Michael S Ip; Vedran Pavlovic; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3899. doi:

ARVO Annual Meeting Abstract July 2018

The Natural History of the Progression of Choroideremia (NIGHT) Study: Longitudinal Changes in Visual Acuity over 12 Months

Mark E Pennesi; Byron L Lam; M Dominik Fischer; Eeva-Marja Kaarina Sankila; Frank G. Holz; Robert E MacLaren; David G Birch; Ian M MacDonald; Graeme Black; Carel C B Hoyng; Neil M Bressler; Stephen H. Tsang; Kimberly E Stepien; Michael S Ip; Vedran Pavlovic; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3898. doi:

ARVO Annual Meeting Abstract July 2018

Spatial distribution of preserved autofluorescence in patients with choroideremia

Amir H Hariri; Aniz Girach; Michael S Ip; Byron L Lam; M Dominik Fischer; Eeva-Marja Kaarina Sankila; Mark E Pennesi; Frank G. Holz; David G Birch; Robert E MacLaren; Ian M MacDonald; Carel C B Hoyng; Graeme Black; Neil M Bressler; Stephen H. Tsang; Srinivas R. Sadda

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4991. 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

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

Includes: Supplemental Content

Review September 2017

Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness

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Avery E. Sears; Paul S. Bernstein; Artur V. Cideciyan; Carel Hoyng; Peter Charbel Issa; Krzysztof Palczewski; Philip J. Rosenfeld; SriniVas Sadda; Ulrich Schraermeyer; Janet R. Sparrow; Ilyas Washington; Hendrik P.N. Scholl
TAGS: blindness, stargardt's disease
Trans. Vis. Sci. Tech.. 2017; 6(5):6. doi: 10.1167/tvst.6.5.6

ARVO Annual Meeting Abstract June 2017

RPGR -associated retinal dystrophies: a longitudinal study

Mays Talib; Mary J van Schooneveld; Jan Wijnholds; Nicoline Schalij-Delfos; Ralph J. Florijn; Ingeborgh Van Den Born; Frans P Cremers; Alberta A H J Thiadens; Carel C B Hoyng; Caroline Klaver; Arthur Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2012. doi:

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

Automatic detection of the foveal center in optical coherence tomography

Bart Liefers; Freerk G Venhuizen; Vivian Schreur; Bram van Ginneken; Carel C B Hoyng; Thomas Theelen; Clara I Sanchez

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):670. doi:

ARVO Annual Meeting Abstract June 2017

Fully automated detection of hyperreflective foci in optical coherence tomography

Freerk G Venhuizen; Samuel Schaffhauser; Vivian Schreur; Lebriz Altay; Bart Liefers; Bram van Ginneken; Carel C B Hoyng; Thomas Theelen; Eiko de Jong; Clara I Sanchez

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):671. 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:

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Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

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

Whole-exome sequencing in age-related macular degeneration identifies rare protein-altering variants in COL8A1, a component of Bruch’s membrane

Homozygous mutations in KIAA1549 , encoding a ciliary protein, cause autosomal recessive retinitis pigmentosa.

Progression to late AMD: Role of SDOCT-biomarkers in patients with drusenoid PED

Extensive phenotyping in CRB1 -associated retinal dystrophies: defining clinical endpoints for gene therapy trials

Antisense oligonucleotide-based restoration of ABCA4 splicing defects caused by deep-intronic mutations associated with Stargardt disease

Genome-wide association study underlines the role of the complement system in chronic central serous chorioretinopathy

Natural History of Progression of Choroideremia (NIGHT) Study: Cross-Sectional Analysis of Baseline Characteristics

The Natural History of the Progression of Choroideremia (NIGHT) Study: Longitudinal Changes in Visual Acuity over 12 Months

Spatial distribution of preserved autofluorescence in patients with choroideremia

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

Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness

RPGR -associated retinal dystrophies: a longitudinal study

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

Automatic detection of the foveal center in optical coherence tomography

Fully automated detection of hyperreflective foci in optical coherence tomography

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.

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