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Investigative Ophthalmology & Visual Science (4)

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ARVO Annual Meeting Abstract (2)
Genetics (1)
Retina (1)

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Genetics (2)
Eye Anatomy and Disorders (1)
Retina (1)

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mutation (2)
autosomal recessive inheritance (1)
electroretinography (1)
family (1)
genes (1)
homozygote (1)
mutation, nonsense (1)
phenotype (1)
proteins (1)
retinal cone (1)

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ARVO Annual Meeting Abstract June 2024

Exploring exon-skipping as a therapeutic intervention strategy for the future treatment of ADGRV1- associated retinitis pigmentosa

Merel Stemerdink; Sanne Broekman; Lucija Malinar; Theo Peters; Hanka Venselaar; Hannie Kremer; Erik Vrieze; Erwin Wijk

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5342.

ARVO Annual Meeting Abstract June 2022

Scrutinizing pathogenicity of the USH2A c.2276G>T; p.(Cys759Phe) variant

Janine Reurink; Erik de Vrieze; Catherina H.Z. Li; Sanne Broekman; Theo Peters; Kornelia Neveling; Hanka Venselaar; Christian Gilissen; Janneke J.C. van Lith-Verhoeven; Lonneke Haer-Wigman; Carel C B Hoyng; Frans P Cremers; Hannie Kremer; Susanne Roosing; Erwin van Wyk

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):491 – A0068.

Genetics November 2016

Mutations in AGBL5 , Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

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Galuh D. N. Astuti; Gavin Arno; Sarah Hull; Laurence Pierrache; Hanka Venselaar; Keren Carss; F. Lucy Raymond; Rob W. J. Collin; Sultana M. H. Faradz; L. Ingeborgh van den Born; Andrew R. Webster; Frans P. M. Cremers
TAGS: autosomal recessive inheritance, mutation, retinitis pigmentosa, tubulin, family, genes, proteins
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6180-6187. https://doi.org/10.1167/iovs.16-20148

Retina May 2009

A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone–Rod Synaptic Disorder

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Karin W. Littink; Maria M. van Genderen; Rob W. J. Collin; Susanne Roosing; Arjan P. M. de Brouwer; Frans C. C. Riemslag; Hanka Venselaar; Alberta A. H. J. Thiadens; Carel B. Hoyng; Klaus Rohrschneider; Anneke I. den Hollander; Frans P. M. Cremers; L. Ingeborgh van den Born
TAGS: homozygote, mutation, mutation, nonsense, retinal cone, rod photoreceptors, electroretinography, phenotype
Invest. Ophthalmol. Vis. Sci.. 2009; 50(5):2344-2350. https://doi.org/10.1167/iovs.08-2553

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Online ISSN: 1552-5783

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

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