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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
TAGS: penetrance, genetic, stargardt's disease, proband, alleles, age of onset
Invest. Ophthalmol. Vis. Sci.. 2018; 59(8):3220-3231. https://doi.org/10.1167/iovs.18-23881

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Usefulness of flash-VEP in childhood visual impairment

Klaus Rohrschneider

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4674.

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy: mutations found in 12 additional families

Kent W Small; Fadi Shaya; Svetlana Yelchits; Adam P DeLuca; Richard Alan Lewis; Monique J Leys; Nitin Udar; Benjamin Bakall; Klaus Rohrschneider; Bernard Puech; Virginie Puech; Elise Heon; James C Folk; Gerald A Fishman; Christine Garabetian; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2779.

ARVO Annual Meeting Abstract September 2016

North Carolina Macular Dystrophy (NCMD / MCDR1) mutations found; PRDM13

Kent W Small; Adam P DeLuca; Frans P Cremers; Carl Hoyng; Monique J Leys; Benjamin Bakall; Richard Allen Lewis; Rosemary Silva-Garcia; Klaus Rohrschneider; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3133.

ARVO Annual Meeting Abstract April 2014

Fundus perimetry in the long-term follow-up of Stargardt’s disease

Klaus Rohrschneider; Christina Springer; Petra Weimer

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1427.

ARVO Annual Meeting Abstract June 2013

The farnesylated small GTPase RAB28 is mutated in autosomal recessive cone-rod dystrophy

Susanne Roosing; Klaus Rohrschneider; Avigail Beryozkin; Nicole Weisschuh; Susanne Kohl; Bernd Wissinger; Eyal Banin; Frans Cremers; Anneke Den Hollander; RAB28 Study Group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1228.

ARVO Annual Meeting Abstract March 2012

Autofluorescence Imaging And Spectral-Domain Optical Coherence Tomography In Hereditary Chorioretinal Diseases

Klaus Rohrschneider; Alexander F. Scheuerle

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):824.

ARVO Annual Meeting Abstract March 2012

Patterns of Fixation registered by Spectral Domain OCT

Alexander F. Scheuerle; Petra Weimer; Klaus Rohrschneider

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):836.

ARVO Annual Meeting Abstract March 2012

Outcome And Structural Evolution Of Mytomycin Assisted Trabeculectomy In Inflammatory Glaucoma

Friederike Mackensen; Bianca C. Dobner; Alexandra B. Knoll; Alexander F. Scheuerle; Klaus Rohrschneider

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5948.

ARVO Annual Meeting Abstract April 2011

Measurement Of Visual Acuity - Landolt Rings Versus Numbers Or Symbols

Klaus Rohrschneider; Axel R. Spittler

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1894.

Retina February 2011

IQCB1 Mutations in Patients with Leber Congenital Amaurosis

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Alejandro Estrada-Cuzcano; Robert K. Koenekoop; Frauke Coppieters; Susanne Kohl; Irma Lopez; Rob W. J. Collin; Elfride B. W. De Baere; Debbie Roeleveld; Jonah Marek; Antje Bernd; Klaus Rohrschneider; L. Ingeborgh van den Born; Françoise Meire; Irene H. Maumenee; Samuel G. Jacobson; Carel B. Hoyng; Eberhart Zrenner; Frans P. M. Cremers; Anneke I. den Hollander
TAGS: leber's amaurosis, mutation, medullary cystic disease
Invest. Ophthalmol. Vis. Sci.. 2011; 52(2):834-839. https://doi.org/10.1167/iovs.10-5221

Retina November 2010

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

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Karin W. Littink; Robert K. Koenekoop; L. Ingeborgh van den Born; Rob W. J. Collin; Luminita Moruz; Joris A. Veltman; Susanne Roosing; Marijke N. Zonneveld; Amer Omar; Mahshad Darvish; Irma Lopez; Hester Y. Kroes; Maria M. van Genderen; Carel B. Hoyng; Klaus Rohrschneider; Mary J. van Schooneveld; Frans P. M. Cremers; Anneke I. den Hollander
TAGS: homozygote, mutation, progressive cone-rod dystrophy, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2010; 51(11):5943-5951. https://doi.org/10.1167/iovs.10-5797

Includes: Supplemental Content

Retina July 2010

A Novel Nonsense Mutation in CEP290 Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

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Karin W. Littink; Jan-Willem R. Pott; Rob W. J. Collin; Hester Y. Kroes; Joke B. G. M. Verheij; Ellen A. W. Blokland; Marta de Castro Miró; Carel B. Hoyng; Caroline C. W. Klaver; Robert K. Koenekoop; Klaus Rohrschneider; Frans P. M. Cremers; L. Ingeborgh van den Born; Anneke I. den Hollander
TAGS: exons, mutation, mutation, nonsense, phenotype, visual acuity, mertk gene
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3646-3652. https://doi.org/10.1167/iovs.09-5074

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2010

Nphp5 Mutations in Patients With Leber Congenital Amaurosis

A. Estrada Cuzcano; R. K. Koenekoop; S. Kohl; K. Rohrschneider; I. H. Maumenee; S. G. Jacobson; C. B. Hoyng; E. Zrenner; F. P. M. Cremers; A. I. den Hollander

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):2578.

ARVO Annual Meeting Abstract April 2010

Long-Term Results of a Monocentric Randomized Controlled Clinical Trial Comparing Interferon Beta With Methotrexate in the Treatment of Uveitis Macular Edema

F. Mackensen; E. Jakob; C. Springer; P. Weimer; U. Wiehler; K. Rohrschneider; B. Storch-Hagenlocher; R. Max; M. D. Becker

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):2916.

ARVO Annual Meeting Abstract April 2010

Static Versus Kinetic Perimetry in Glaucomatous Visual Field Defects

K. Rohrschneider; A. F. Scheuerle

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):5495.

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

ARVO Annual Meeting Abstract April 2009

Intraindividual Variability of Optic Disc Parameters

A. F. Scheuerle; B. Yang; E. Schmidt; K. Rohrschneider

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):5810.

ARVO Annual Meeting Abstract April 2009

Identification of Novel Genetic Defects in Outbred Cone-Rod Dystrophy Patients Using Homozygosity Mapping

K. W. Littink; L. I. van den Born; R. W. J. Collin; K. Rohrschneider; M. M. van Genderen; M. J. van Schooneveld; M. N. Zonneveld-Vrieling; A. I. den Hollander; F. P. M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):2326.

ARVO Annual Meeting Abstract April 2009

Dice Test for Determination of Visual Acuity in Low Vision Infants

K. Rohrschneider; B. Brill; P. Arens; Y. Bayer

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4723.

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

Usefulness of flash-VEP in childhood visual impairment

North Carolina macular dystrophy: mutations found in 12 additional families

North Carolina Macular Dystrophy (NCMD / MCDR1) mutations found; PRDM13

Fundus perimetry in the long-term follow-up of Stargardt’s disease

The farnesylated small GTPase RAB28 is mutated in autosomal recessive cone-rod dystrophy

Autofluorescence Imaging And Spectral-Domain Optical Coherence Tomography In Hereditary Chorioretinal Diseases

Patterns of Fixation registered by Spectral Domain OCT

Outcome And Structural Evolution Of Mytomycin Assisted Trabeculectomy In Inflammatory Glaucoma

Measurement Of Visual Acuity - Landolt Rings Versus Numbers Or Symbols

IQCB1 Mutations in Patients with Leber Congenital Amaurosis

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

A Novel Nonsense Mutation in CEP290 Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

Nphp5 Mutations in Patients With Leber Congenital Amaurosis

Long-Term Results of a Monocentric Randomized Controlled Clinical Trial Comparing Interferon Beta With Methotrexate in the Treatment of Uveitis Macular Edema

Static Versus Kinetic Perimetry in Glaucomatous Visual Field Defects

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

Intraindividual Variability of Optic Disc Parameters

Identification of Novel Genetic Defects in Outbred Cone-Rod Dystrophy Patients Using Homozygosity Mapping

Dice Test for Determination of Visual Acuity in Low Vision Infants

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