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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

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:

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

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

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:

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

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

Fluorescein angiography and fundus autofluorescence imaging discrepancy in patients with chronic central serous chorioretinopathy

Vladimir Sheptulin; Danial Mohabati; Elon Van Dijk; Camiel J F Boon; Carel C B Hoyng; Konstantine Purtskhvanidze; Johann Roider

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1501. doi:

ARVO Annual Meeting Abstract June 2017

Long-term phenotype changes in patients with chronic central serous chorioretinopathy.

Johann Roider; Konstantine Purtskhvanidze; Vladimir Sheptulin; Danial Mohabati; Elon HC van Dijk; Camiel J F Boon; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1503. doi:

ARVO Annual Meeting Abstract June 2017

Genomics approaches to identify an elusive defect at chromosome 17q22 in an autosomal dominant retinitis pigmentosa family

Susanne Roosing; Muhammad Khan; Shazia Micheal; Marijke N. Zonneveld-Vrieling; Beryl Royer-Bertrand; Carlo Rivolta; Anneke I Den Hollander; Carel C B Hoyng; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2750. doi:

ARVO Annual Meeting Abstract June 2017

The clinical spectrum of IMPG2 -associated retinal dystrophies

Alberta A H J Thiadens; Anne E.D. de Boer; J Anneke Kievit; Virginie JM Verhoeven; Carel C B Hoyng; Ramon van Huet; Caroline Klaver

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2765. doi:

ARVO Annual Meeting Abstract June 2017

Identification of a Novel Variant Associated with anti-VEGF Response in Age-related Macular Degeneration Using Exome Chip Analysis

Michelle Grunin; Laura Lorés-Motta; Moeen Riaz; Jordi Corominas; Andrea J. Richardson; Sascha Fauser; Robyn H Guymer; Eiko de Jong; Iris M Heid; Carel C B Hoyng; Andrew J Lotery; Paul Mitchell; Paul N Baird; Anneke I Den Hollander; Itay Chowers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1840. doi:

ARVO Annual Meeting Abstract June 2017

Hyperreflective foci predict treatment response to bevacizumab in patients with diabetic macular edema

Vivian Schreur; Lebriz Altay; Freekje Van Asten; Joannes Groenewoud; Jeroen Klevering; Carel C B Hoyng; Eiko de Jong

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1896. doi:

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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

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

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

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

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

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

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.

Fluorescein angiography and fundus autofluorescence imaging discrepancy in patients with chronic central serous chorioretinopathy

Long-term phenotype changes in patients with chronic central serous chorioretinopathy.

Genomics approaches to identify an elusive defect at chromosome 17q22 in an autosomal dominant retinitis pigmentosa family

The clinical spectrum of IMPG2 -associated retinal dystrophies

Identification of a Novel Variant Associated with anti-VEGF Response in Age-related Macular Degeneration Using Exome Chip Analysis

Hyperreflective foci predict treatment response to bevacizumab in patients with diabetic macular edema

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