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Genetics August 2024

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

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Pam A. T. Heutinck; L. Ingeborgh van den Born; Maikel Vermeer; Adriana I. Iglesias Gonzales; Carel B. Hoyng; Jan Willem R. Pott; Hester Y. Kroes; Mary J. van Schooneveld; Camiel J. F. Boon; Maria M. van Genderen; Astrid S. Plomp; Yvonne de Jong-Hesse; Michelle B. van Egmond-Ebbeling; Lies H. Hoefsloot; Arthur A. Bergen; Caroline C. W. Klaver; Magda A. Meester-Smoor; Alberta A. H. J. Thiadens; Virginie J. M. Verhoeven
TAGS: child, cohort studies, dutch, genetics, hereditary retinal dystrophy, pediatrics, phenotype, genes
Invest. Ophthalmol. Vis. Sci.. 2024; 65(10):40. https://doi.org/10.1167/iovs.65.10.40

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Elucidating disease mechanisms of gyrate atrophy using induced pluripotent stem cell lines

Mark Buijs; Anneloor L M A Ten Asbroek; Ronald Wanders; Riekelt Houtkooper; Clara van Karnebeek; Arthur Bergen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1567.

ARVO Annual Meeting Abstract June 2024

The circadian modulation of melanin biosynthesis by targeting the ROR regulatory motif in the retinal pigment epithelium

Nemanja Milićević; Amandine Bery; Bobin George Abraham; Marie-Paule Felder-Schmittbuhl; Arthur Bergen; Teemu Ihalainen; Soile Nymark

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2185.

ARVO Annual Meeting Abstract June 2024

The influence of embryoid body formation methodology on subsequent retinal organoids development

Andrea Heredero; Ellie L Wagstaff; Anneloor L M A Ten Asbroek; Jacoline ten Brink; Arthur Bergen; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4536.

ARVO Annual Meeting Abstract June 2024

Characterisation of patient-derived in vitro retinal organoid models of human Oculocutaneous albinism and FHONDA

Ellie Wagstaff; Giulia Gavezzoli; Eszter Emri; Anneloor L M A Ten Asbroek; Coralie Fassier; Nomdo M Jansonius; Arthur Bergen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4535.

ARVO Annual Meeting Abstract June 2024

Efficacy and Safety of AAV-based LRAT Gene Supplementation Therapy in a New Lrat Rat Model for Retinitis Pigmentosa

Céline Koster; Ardine de Vos; Anna Maria El-Kalaani; Colby F. Lewallen; Andrea Heredero; Devin McDougald; Nicolas Lonfat; Kip M Connor; Camiel Boon; Arthur Bergen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5343.

ARVO Annual Meeting Abstract June 2024

Successful knockdown of retinoschisin in zebrafish larvae

Isa van der Veen; Céline Koster; Maarten Kamermans; Jacoline ten Brink; Arthur Bergen; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6690.

ARVO Annual Meeting Abstract June 2023

Efficacy of carbonic anhydrase inhibitors on cystoid macular lesions and visual acuity in patients with X-linked retinoschisis

Jonathan Hensman; Leo Hahn; Rosalie Diederen; Jacoline ten Brink; Ralph Florijn; Arthur Bergen; Ine Strubbe; Pam Heutinck; Maria M van Genderen; Ingeborgh Van Den Born; Alberta A H J Thiadens; Carel C B Hoyng; Bart Peter Leroy; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1550.

ARVO Annual Meeting Abstract June 2023

A histopathological correlation of Bruch’s membrane calcification in pseudoxanthoma elasticum with clinical retinal imaging

Imre Lengyel; Sara Risseeuw; Matthew Pilgrim; Connor Brown; Lajos Csincsik; Sarah Fearn; Richard Thompson; Arthur Bergen; Jacoline ten Brink; Wilko Spiering; Sergio Bertazzo; Jeannette Ossewaarde-van Norel; Redmer van Leeuwen

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2311.

ARVO Annual Meeting Abstract June 2023

Investigating the impact of starting conditions on retinal organoid generation

Andrea Heredero; Philip E Wagstaff; Anneloor LMA Ten Asbroek; Jacoline ten Brink; Arthur Bergen; Camiel J.F. Boon

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3184.

ARVO Annual Meeting Abstract June 2023

Spatiotemporal expression profiling of retinoschisin (RS1) homologues Rs1a and Rs1b in the developing zebrafish retina

Isa van der Veen; Maarten Kamermans; Céline Koster; Jacoline ten Brink; Arthur Bergen; Camiel J.F. Boon

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3635.

ARVO Annual Meeting Abstract June 2022

Clinical and histopathologic characteristics of autosomal dominant cone-rod dystrophy caused by mutations in the CRX gene

Isa van der Veen; Leo Hahn; Michalis Georgiou; Mary J. van Schooneveld; Jacoline B ten Brink; Ralph J. Florijn; Annette Ossewaarde-van Norel; Omar Abdul Rahman Mahroo; Emanuel de Carvalho; Arthur A. Bergen; Michel Michaelides; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1785 – F0334.

ARVO Annual Meeting Abstract June 2022

Generation of an in vitro stem cell based model for researching gyrate atrophy of the choroid and retina

Mark Buijs; Berith Balfoort; Anneloor L M A Ten Asbroek; Camiel J F Boon; Marion Brands; Riekelt Houtkooper; Margreet Wagenmakers; Hans Waterham; Corrie Timmer; Ronald Wanders; Clara Karnebeek; Arthur A. Bergen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2430 – F0374.

ARVO Annual Meeting Abstract June 2022

Correlation of clinical fundus images with molecular and histopathological analyses of calcified Bruch’s membrane in patients with pseudoxanthoma elasticum

Matthew Pilgrim; Sara Risseeuw; Connor Nelson Brown; Lajos Csincsik; Richard Thompson; Elod Kortvely; Arthur A. Bergen; Jacoline B ten Brink; Annette Ossewaarde-van Norel; Redmer van Leeuwen; Imre Lengyel

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2374 – A0058.

ARVO Annual Meeting Abstract June 2022

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

Leo Hahn; Mary J. van Schooneveld; Ralph J. Florijn; Jacoline B ten Brink; Ine Strubbe; Magda M. Meester-Smoor; Alberta A H J Thiadens; Roselie M.H. Diederen; Caroline C W Klaver; Carel C B Hoyng; Mies M. van Genderen; Bart P Leroy; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3319 – F0128.

ARVO Annual Meeting Abstract June 2022

Four-year prospective follow-up in patients with CRB1 -associated retinal dystrophies

Jessica Serena Karuntu; Xuan-Thanh-An Nguyen; Mays Talib; Mary J. van Schooneveld; Jan Wijnholds; Mies M. van Genderen; Nicoline E. Schalij-Delfos; Caroline C W Klaver; Ralph J. Florijn; Jacoline B ten Brink; Magda M. Meester-Smoor; L. Ingeborgh van den Born; Carel C B Hoyng; Alberta A H J Thiadens; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4479 – F0266.

ARVO Annual Meeting Abstract June 2022

In vitro modelling of human albinism (OCA1) using patient-derived iPSC-RPE

Reinier Bakker; Ellie L. Wagstaff; Mies M. van Genderen; Eszter Emri; Arthur A. Bergen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2429 – F0373.

ARVO Annual Meeting Abstract June 2022

A comparison of human stem cell-retinal organoid protocols as a way to investigate the timing and regulation of RS1 protein

Andrea Heredero; Ellie L. Wagstaff; Anneloor L M A Ten Asbroek; Jacoline B ten Brink; Arthur A. Bergen; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2428 – F0372.

Clinical and Epidemiologic Research January 2022

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

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Charlotte C. Kruijt; Libe Gradstein; Arthur A. Bergen; Ralph J. Florijn; Benoit Arveiler; Eulalie Lasseaux; Xavier Zanlonghi; Laura Bagdonaite-Bejarano; Anne B. Fulton; Claudia Yahalom; Anat Blumenfeld; Yonatan Perez; Ohad S. Birk; Gerard C. de Wit; Nicoline E. Schalij-Delfos; Maria M. van Genderen
TAGS: albinism, albinism, oculocutaneous, foveal hypoplasia, phenotype, syndrome, pathologic nystagmus, mutation
Invest. Ophthalmol. Vis. Sci.. 2022; 63(1):19. https://doi.org/10.1167/iovs.63.1.19

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Clinical and genetic spectrum of patients with GUCY2D -associated retinal dystrophies

Leo Hahn; Mary J. van Schooneveld; Michalis Georgiou; Magda Meester-Smoor; Andrew J Lotery; Maria M. van Genderen; Jeannette Ossewaarde-van Norel; L. Ingeborgh van den Born; Carel Hoyng; Caroline C. W. Klaver; Susan M Downes; Martin McKibbin; Arthur A.B. Bergen; Bart Leroy; Michel Michaelides; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1544.

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Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

Elucidating disease mechanisms of gyrate atrophy using induced pluripotent stem cell lines

The circadian modulation of melanin biosynthesis by targeting the ROR regulatory motif in the retinal pigment epithelium

The influence of embryoid body formation methodology on subsequent retinal organoids development

Characterisation of patient-derived in vitro retinal organoid models of human Oculocutaneous albinism and FHONDA

Efficacy and Safety of AAV-based LRAT Gene Supplementation Therapy in a New Lrat Rat Model for Retinitis Pigmentosa

Successful knockdown of retinoschisin in zebrafish larvae

Efficacy of carbonic anhydrase inhibitors on cystoid macular lesions and visual acuity in patients with X-linked retinoschisis

A histopathological correlation of Bruch’s membrane calcification in pseudoxanthoma elasticum with clinical retinal imaging

Investigating the impact of starting conditions on retinal organoid generation

Spatiotemporal expression profiling of retinoschisin (RS1) homologues Rs1a and Rs1b in the developing zebrafish retina

Clinical and histopathologic characteristics of autosomal dominant cone-rod dystrophy caused by mutations in the CRX gene

Generation of an in vitro stem cell based model for researching gyrate atrophy of the choroid and retina

Correlation of clinical fundus images with molecular and histopathological analyses of calcified Bruch’s membrane in patients with pseudoxanthoma elasticum

The evolution and spectrum of structural changes in X-linked retinoschisis on retinal imaging

Four-year prospective follow-up in patients with CRB1 -associated retinal dystrophies

In vitro modelling of human albinism (OCA1) using patient-derived iPSC-RPE

A comparison of human stem cell-retinal organoid protocols as a way to investigate the timing and regulation of RS1 protein

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

Clinical and genetic spectrum of patients with GUCY2D -associated retinal dystrophies

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