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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. doi: https://doi.org/10.1167/iovs.18-23881

Includes: Supplemental Content

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. doi:

ARVO Annual Meeting Abstract June 2017

Usefulness of flash-VEP in childhood visual impairment

Klaus Rohrschneider

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

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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi: 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. doi: 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. doi: https://doi.org/10.1167/iovs.09-5074

Includes: Supplemental Content

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. doi: https://doi.org/10.1167/iovs.08-2553

Retina December 2007

Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays

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Anneke I. den Hollander; Irma Lopez; Suzanne Yzer; Marijke N. Zonneveld; Irene M. Janssen; Tim M. Strom; Jayne Y. Hehir-Kwa; Joris A. Veltman; Maarten L. Arends; Thomas Meitinger; Maria A. Musarella; L. Ingeborgh van den Born; Gerald A. Fishman; Irene H. Maumenee; Klaus Rohrschneider; Frans P. M. Cremers; Robert K. Koenekoop
TAGS: child, genes, genome, homozygote, leber's amaurosis, mutation, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5690-5698. doi: https://doi.org/10.1167/iovs.07-0610

Retina August 2007

Microperimetric Assessment of Patients with Type 2 Idiopathic Macular Telangiectasia

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Peter Charbel Issa; Hans-Martin Helb; Klaus Rohrschneider; Frank G. Holz; Hendrik P. N. Scholl
TAGS: eye, fovea centralis, patient evaluation, scotoma, telangiectasis, visual acuity, parafoveal region, angiogram, fluorescein angiography, pigment
Invest. Ophthalmol. Vis. Sci.. 2007; 48(8):3788-3795. doi: https://doi.org/10.1167/iovs.06-1272

Retina March 2006

Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

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Suzanne Yzer; Bart P. Leroy; Elfride De Baere; Thomy J. de Ravel; Marijke N. Zonneveld; Krysta Voesenek; Ulrich Kellner; Jose P. Martinez Ciriano; Jan-Tjeerd H. N. de Faber; Klaus Rohrschneider; Ronald Roepman; Anneke I. den Hollander; Johannes R. Cruysberg; Françoise Meire; Ingele Casteels; Norka G. van Moll-Ramirez; Rando Allikmets; L. Ingeborgh van den Born; Frans P. M. Cremers
TAGS: genotype, leber's amaurosis, mutation, phenotype, genes, ophthalmoscopy, eye
Invest. Ophthalmol. Vis. Sci.. 2006; 47(3):1167-1176. doi: https://doi.org/10.1167/iovs.05-0848

Retina December 2004

Fundus Autofluorescence and Fundus Perimetry in the Junctional Zone of Geographic Atrophy in Patients with Age-Related Macular Degeneration

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Steffen Schmitz-Valckenberg; Stefan Bültmann; Jens Dreyhaupt; Almut Bindewald; Frank G. Holz; Klaus Rohrschneider
TAGS: age-related macular degeneration, atrophy, fundus autofluorescence imaging, perimetry, eye, atrophic condition of skin
Invest. Ophthalmol. Vis. Sci.. 2004; 45(12):4470-4476. doi: https://doi.org/10.1167/iovs.03-1311

Retina September 2004

Determination of the Location of the Fovea on the Fundus

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Klaus Rohrschneider
TAGS: fovea centralis, optic disk
Invest. Ophthalmol. Vis. Sci.. 2004; 45(9):3257-3258. doi: https://doi.org/10.1167/iovs.03-1157

Retina June 2002

Phenotypic Spectrum of Autosomal Recessive Cone–Rod Dystrophies Caused by Mutations in the ABCA4 ( ABCR ) Gene

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B. Jeroen Klevering; Anita Blankenagel; Alessandra Maugeri; Frans P. M. Cremers; Carel B. Hoyng; Klaus Rohrschneider
TAGS: autosomal recessive inheritance, genes, mutation, phenotype, progressive cone-rod dystrophy, retinitis pigmentosa, electroretinography, retinal cone, retinal dystrophies, rod photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2002; 43(6):1980-1985. doi:

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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

North Carolina macular dystrophy: mutations found in 12 additional families

Usefulness of flash-VEP in childhood visual impairment

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

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

Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays

Microperimetric Assessment of Patients with Type 2 Idiopathic Macular Telangiectasia

Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

Fundus Autofluorescence and Fundus Perimetry in the Junctional Zone of Geographic Atrophy in Patients with Age-Related Macular Degeneration

Determination of the Location of the Fovea on the Fundus

Phenotypic Spectrum of Autosomal Recessive Cone–Rod Dystrophies Caused by Mutations in the ABCA4 ( ABCR ) Gene

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