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Immunology and Microbiology February 2025

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

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Lude Moekotte; Joke H. de Boer; Sanne Hiddingh; Aafke de Ligt; Xuan-Thanh-An Nguyen; Carel B. Hoyng; Chris F. Inglehearn; Martin McKibbin; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Terri L. McLaren; Alaa AlTalbishi; Daan M. Panneman; Erica G. M. Boonen; Sandro Banfi; Béatrice Bocquet; Isabelle Meunier; Elfride De Baere; Robert Koenekoop; Monika Ołdak; Carlo Rivolta; Lisa Roberts; Raj Ramesar; Rasa Strupaitė-Šileikienė; Susanne Kohl; G. Jane Farrar; Marion van Vugt; Jessica van Setten; Susanne Roosing; L. Ingeborgh van den Born; Camiel J. F. Boon; Maria M. van Genderen; Jonas J. W. Kuiper
TAGS: complement system proteins, hereditary retinal dystrophy, plasma, proteins, genotype, proteome, genes
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):55. https://doi.org/10.1167/iovs.66.2.55

Includes: Supplemental Content

Clinical and Epidemiologic Research December 2024

Natural Course of Refractive Error in Congenital Stationary Night Blindness: Implications for Myopia Treatment

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Mariëlle M. F. Poels; Gerard C. de Wit; Mieke M. C. Bijveld; Maria M. van Genderen
TAGS: myopia, night blindness, congenital stationary, refraction, refractive errors
Invest. Ophthalmol. Vis. Sci.. 2024; 65(14):9. https://doi.org/10.1167/iovs.65.14.9

Includes: Supplemental Content

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

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology December 2023

Nystagmus Characteristics in Albinism: Unveiling the Link to Foveal Hypoplasia and Visual Acuity

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Herman E. Talsma; Charlotte C. Kruijt; Gerard C. de Wit; Stefan H. L. Zwerver; Maria M. van Genderen
TAGS: albinism, foveal hypoplasia, pathologic nystagmus, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2023; 64(15):30. https://doi.org/10.1167/iovs.64.15.30

Includes: Supplemental Content

Immunology and Microbiology October 2023

CRB1 -Associated Retinal Dystrophy Patients Have Expanded Lewis Glycoantigen-Positive T Cells

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Lude Moekotte; Jonas J. W. Kuiper; Sanne Hiddingh; Xuan-Thanh-An Nguyen; Camiel J. F. Boon; L. Ingeborgh van den Born; Joke H. de Boer; Maria M. van Genderen
TAGS: retinal dystrophies, t-lymphocytes, flow cytometry
Invest. Ophthalmol. Vis. Sci.. 2023; 64(13):6. https://doi.org/10.1167/iovs.64.13.6

Includes: Supplemental Content

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

Cutaneous lymphocyte antigen (CLA) T cells increased and plasmacytoid dendritic cells (pDC) decreased in CRB1 -associated retinal dystrophy

Lude Moekotte; Jonas J.W. Kuiper; Sanne Hiddingh; X. Nguyen; Camiel J.F. Boon; Ingeborgh Van Den Born; Joke H. de Boer; Maria M van Genderen

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3020.

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.

ARVO Annual Meeting Abstract June 2021

X-linked retinoschisis: Long-term follow-up and genetic spectrum in 340 patients

Camiel J F Boon; Leo Hahn; Mary J. van Schooneveld; Ralph J. Florijn; Jacoline B. ten Brink; Ine Strubbe; Michel H. Hof; Magda Meester-Smoor; Caroline C. W. Klaver; Alberta A. Thiadens; Jeannette Ossewaarde-van Norel; L. Ingeborgh van den Born; Carel Hoyng; Maria M. van Genderen; Bart P Leroy; Arthur A.B. Bergen

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2172.

ARVO Annual Meeting Abstract June 2021

The impact of the OrCam device on the quality of life in patients with inherited retinal dystrophies

Xuan-Thanh-An Nguyen; Jan Koopman; Maria M. van Genderen; Henk Stam; Camiel J F Boon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3606.

ARVO Annual Meeting Abstract June 2020

A two-year prospective natural history study in patients with CRB1-associated retinal dystrophies: establishing clinical endpoints for future gene therapy trials

Xuan-Thanh-An Nguyen; Mays Talib; Mary J. van Schooneveld; Jan Wijnholds; Maria M. van Genderen; Ralph J. Florijn; Jacoline ten Brink; Frans P Cremers; Magda A. Meester; Caroline Klaver; L. Ingeborgh van den Born; Carel C B Hoyng; Alberta Thiadens; Arthur Bergen; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3051.

Visual Neuroscience September 2019

The Detection Of Misrouting In Albinism: Evaluation of Different VEP Procedures in a Heterogeneous Cohort

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Charlotte C. Kruijt; Gerard C. de Wit; Herman E. Talsma; Nicoline E. Schalij-Delfos; Maria M. van Genderen
TAGS: albinism, cohort studies, evoked potentials, visual, heterogeneity
Invest. Ophthalmol. Vis. Sci.. 2019; 60(12):3963-3969. https://doi.org/10.1167/iovs.19-27364

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

Susanne Roosing; Sanne K Verbakel; Zeinab Fadaie; Jeroen Klevering; Maria M. van Genderen; Ilse Feenstra; Frans P Cremers; Carel C B Hoyng

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):423.

ARVO Annual Meeting Abstract July 2019

A registry and research database for retinal dystrophies – the RD5000 database

Magda Meester; Maikel Vermeer; Camiel Boon; Maria M. van Genderen; Carel C B Hoyng; Frans P Cremers; Clasien Oomen; Alberta A H J Thiadens; Jan-Willem R. Pott; Mary J van Schooneveld; Caroline C W Klaver; L. Ingeborgh van den Born

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3962.

ARVO Annual Meeting Abstract July 2019

Prolonged cone b-wave on electroretinography is associated with more severe inflammation in non-infectious uveitis.

Anna Brouwer; Maria M. van Genderen; Gerard de Wit; Ninette ten Dam; Ralph Wijnhoven; Joke de Boer

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4245.

ARVO Annual Meeting Abstract July 2019

The disease course of rhodopsin (RHO) -associated retinitis pigmentosa (RP): a follow-up study

Xuan-Thanh-An Nguyen; Mays Talib; Mary J van Schooneveld; Caroline Van Cauwenbergh; Jacoline B ten Brink; Ralph J Florijn; Nicoline Schalij-Delfos; Maria M. van Genderen; Frans P Cremers; L. Ingeborgh van den Born; Alberta A H J Thiadens; Carel C B Hoyng; Caroline C W Klaver; Arthur A Bergen; Bart P Leroy; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4505.

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

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.

ARVO Annual Meeting Abstract September 2016

Natural history study of RPE65 associated autosomal recessive retinal dystrophies.

Laurence Pierrache; suzanne yzer; Maria M. van Genderen; José Schuil; Nienke Boonstra; Jan-Willem R Pott; Mary J. van Schooneveld; Frans P Cremers; Caroline C W Klaver; Ingeborgh Van Den Born

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):150.

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Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

Natural Course of Refractive Error in Congenital Stationary Night Blindness: Implications for Myopia Treatment

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

Nystagmus Characteristics in Albinism: Unveiling the Link to Foveal Hypoplasia and Visual Acuity

CRB1 -Associated Retinal Dystrophy Patients Have Expanded Lewis Glycoantigen-Positive T Cells

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

Cutaneous lymphocyte antigen (CLA) T cells increased and plasmacytoid dendritic cells (pDC) decreased in CRB1 -associated retinal dystrophy

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

X-linked retinoschisis: Long-term follow-up and genetic spectrum in 340 patients

The impact of the OrCam device on the quality of life in patients with inherited retinal dystrophies

A two-year prospective natural history study in patients with CRB1-associated retinal dystrophies: establishing clinical endpoints for future gene therapy trials

The Detection Of Misrouting In Albinism: Evaluation of Different VEP Procedures in a Heterogeneous Cohort

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

A registry and research database for retinal dystrophies – the RD5000 database

Prolonged cone b-wave on electroretinography is associated with more severe inflammation in non-infectious uveitis.

The disease course of rhodopsin (RHO) -associated retinitis pigmentosa (RP): a follow-up study

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

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

Natural history study of RPE65 associated autosomal recessive retinal dystrophies.

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