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Meeting Abstract (9)
Journal Articles (3)

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Investigative Ophthalmology & Visual Science (11)
Translational Vision Science & Technology (1)

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ARVO Annual Meeting Abstract (9)
Retina (3)

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Retina (3)
Eye Anatomy and Disorders (2)
Genetics (2)
Translational Research (1)

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mutation (2)
natural history (2)
retinal dystrophies (2)
vision (2)
carbonic anhydrase iv (1)
disease progression (1)
dna (1)
eye (1)
genes (1)
heterozygote (1)

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Retina November 2024

Patient-Reported Outcomes in RLBP1 Retinal Dystrophy: Longitudinal Assessment in a Prospective Natural History Study

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James Whelan; Jane Green; Marie Burstedt; Erin Greco; Xiao Ni; Claudio Spera; Anmol Mullins; Jean-Yves Deslandes; Zhenzhong Su; Michael Wald; Cynthia L. Grosskreutz; Guillaume Normand; Arnaud Charil; Darlene Lu; Kalliopi Stasi; Karen Holopigian
TAGS: natural history, patient self-report, pik3ca-related overgrowth spectrum, questionnaires, rasch model, retinal dystrophies, vision, significance
Trans. Vis. Sci. Tech.. 2024; 13(11):16. https://doi.org/10.1167/tvst.13.11.16

Includes: Supplemental Content

Retina October 2023

Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study

PDF

Marie Burstedt; James H. Whelan; Jane S. Green; Karen Holopigian; Claudio Spera; Erin Greco; Jean-Yves Deslandes; Michael Wald; Cynthia Grosskreutz; Xiao Ni; Guillaume Normand; Michael Maker; Arnaud Charil; Michael Rosol; Yunsheng He; Kalliopi Stasi
TAGS: disease progression, eye, natural history, retinal dystrophies, retinitis pigmentosa, surrogate endpoints, vision, mutation, wavelength
Invest. Ophthalmol. Vis. Sci.. 2023; 64(13):42. https://doi.org/10.1167/iovs.64.13.42

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Phenotypic expression of EYS mutations in patients with autosomal recessive retinitis pigmentosa in northern Sweden

Marie Burstedt; Frida Jonsson; Ida Maria Westin; Irina Golovleva

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):19.

ARVO Annual Meeting Abstract July 2018

Functional study of two canonical splice site variants c.3877+1G>A and c.2992_2992+6delinsTG in the EYS gene associated with recessive retinitis pigmentosa in northern Sweden

Ida Maria Westin; Frida Jonsson; Lennart Österman; Marie Burstedt; Monica Holmberg; Irina Golovleva

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5413.

ARVO Annual Meeting Abstract June 2017

Central visual function over two-year follow-up of patients with RLBP1 retinitis pigmentosa enrolled in a prospective Natural History Study

Kalliopi Stasi; Michael Wald; Marie Burstedt; Jane Green; James Whelan; Michael Rosol; Xiao Ni; Zhenzhong Su; Jean-Yves Deslandes; Cynthia L Grosskreutz; Karen Holopigian

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3244.

ARVO Annual Meeting Abstract June 2017

Humphrey visual field and flicker electroretinogram changes over two-year follow-up in patients with RLBP1 retinitis pigmentosa enrolled in a prospective Natural History Study

Karen Holopigian; Jane Green; James Whelan; Marie Burstedt; Zhenzhong Su; Jean-Yves Deslandes; Xiao Ni; Michael Wald; Cynthia L Grosskreutz; Kalliopi Stasi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3246.

ARVO Annual Meeting Abstract June 2017

Full-field stimulus threshold dark-adaptation kinetics over two-year follow-up in patients with RLBP1 retinitis pigmentosa enrolled in a prospective Natural History Study

Xiao Ni; Michael Wald; Marie Burstedt; Jane Green; James Whelan; Zhenzhong Su; Jean-Yves Deslandes; Cynthia L Grosskreutz; Kalliopi Stasi; Karen Holopigian

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3249.

ARVO Annual Meeting Abstract June 2017

Cross-sectional evaluation of patient-reported outcomes (PROs) in patients with RLBP1 retinitis pigmentosa enrolled in a Natural History Study

Anmol Mullins; Marie Burstedt; Jane Green; James Whelan; Brigitte Sloesen; Xiao Ni; Zhenzhong Su; Michael Wald; Cynthia L Grosskreutz; Kalliopi Stasi; Karen Holopigian; Jean-Yves Deslandes

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3251.

ARVO Annual Meeting Abstract June 2017

Baseline characteristics of patients with RLBP1 retinitis pigmentosa enrolled in a prospective Natural History Study

Jane Green; Marie Burstedt; James H Whelan; Yunsheng He; Zhenzhong Su; Xiao Ni; Michael Wald; Guillaume Normand; Jean-Yves Deslandes; Cynthia L Grosskreutz; Karen Holopigian; Kalliopi Stasi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3254.

ARVO Annual Meeting Abstract June 2017

Longitudinal evaluation of optical coherence tomography and color fundus photography over 2 year follow up in patients with RLBP1 retinitis pigmentosa

James H Whelan; Guillaume Normand; Michael Maker; Marie Burstedt; Jane Green; Michael Wald; Zhenzhong Su; Xiao Ni; Karen Holopigian; Cynthia L Grosskreutz; Kalliopi Stasi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3255.

ARVO Annual Meeting Abstract September 2016

Heterogeneity and complexity of EYS mutations in autosomal recessive retinitis pigmentosa in northern Sweden

Irina Golovleva; Frida Jonsson; Marie Burstedt

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3136.

Retina July 2008

Carrier of R14W in Carbonic Anhydrase IV Presents Bothnia Dystrophy Phenotype Caused by Two Allelic Mutations in RLBP1

PDF

Linda Köhn; Marie S. I. Burstedt; Frida Jonsson; Konstantin Kadzhaev; Eneli Haamer; Ola Sandgren; Irina Golovleva
TAGS: carbonic anhydrase iv, mutation, phenotype, polymerase chain reaction, dna, genes, heterozygote
Invest. Ophthalmol. Vis. Sci.. 2008; 49(7):3172-3177. https://doi.org/10.1167/iovs.07-1664

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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