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Genetics March 2022

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

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Veronika Vaclavik; Leila Tiab; Young Joo Sun; Vinit B. Mahajan; Alexandre Moulin; Nathalie Allaman-Pillet; Francis L. Munier; Daniel F. Schorderet
TAGS: family, retinitis pigmentosa, whole exome sequencing, collagen, immunohistochemistry, proteins
Invest. Ophthalmol. Vis. Sci.. 2022; 63(3):23. doi: https://doi.org/10.1167/iovs.63.3.23

ARVO Annual Meeting Abstract July 2019

Novel compound heterozygote mutations in CYP2U1 can cause maculopathy with or without neurological signs of hereditary spastic paraplegia HSP56

Veronika Vaclavik; Emanuelle Ranza; Francis Munier; Franz-Josef Holzer; Michel Guipponi; Stylianos Antonarakis; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2930. doi:

ARVO Annual Meeting Abstract June 2017

Mutations in MFSD8 cause early and late onset Autosomal Recessive Macular Dystrophy in Switzerland

Veronika Vaclavik; Daniel F Schorderet; Francis L Munier; Hoai Viet Tran; Margarita Todorova

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2778. doi:

ARVO Annual Meeting Abstract June 2017

Consanguineous Tunisian Family With Enhanced-S-cone Syndrome

youssr louati; Veronika Vaclavik; Daniel F Schorderet; Imen Habibi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4685. doi:

ARVO Annual Meeting Abstract June 2017

Para-arterial preservation of the inner retinal layer in Leber congenital amaurosis: an early and transient sign of retinal degeneration

Ariane de Lassus; Bart Peter Leroy; Veronika Vaclavik; Daniel F Schorderet; Francis L Munier; Hoai Viet Tran

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2762. doi:

Letters to the Editor April 2016

Presence of a Triple Concentric Autofluorescence Ring in NR2E3 -p.G56R–Linked Autosomal Dominant Retinitis Pigmentosa (ADRP)

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Pascal Escher; Veronika Vaclavik; Francis L. Munier; H. Viet Tran
TAGS: autofluorescence, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2016; 57(4):2001-2002. doi: https://doi.org/10.1167/iovs.16-19459

ARVO Annual Meeting Abstract June 2015

Mutation in EYS gene causes variable expressivity, ranging from Leber Congenital Amaurosis to adult onset Retinitis Pimentosa. Autofluorescence Study.

Veronika Vaclavik; Francis L Munier; Daniel F Schorderet; Hoai Viet Tran

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2894. doi:

ARVO Annual Meeting Abstract April 2014

Autosomal recessive besotropinopathy : A novel mutation in BEST1 gene in a consanguinous family. Genotype/Phenotype correlation and follow up of 3 years

Veronika Vaclavik; Francis L Munier; Viet Hoai Tran; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3257. doi:

ARVO Annual Meeting Abstract April 2014

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland

Viet Hoai Tran; Veronika Vaclavik; Susan Houghton; Leila Tiab; Daniel F Schorderet; Francis L Munier

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4514. doi:

ARVO Annual Meeting Abstract June 2013

Crystal deposits in the anterior lens cortex in Bietti crystalline corneoretinal dystrophy and first report of chroidal neovascular membrane in patient affected with Bietti

Veronika Vaclavik; Francis Munier; Daniel Schorderet; Viet Tran

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1350. doi:

ARVO Annual Meeting Abstract June 2013

A novel heterozygote E2331* mutation in PRPF8 gene causes a severe phenotype of Retinitis Pigmentosa with early loss of visual acuity

Olga Passarin; Francis Munier; Viet Tran; Daniel Schorderet; Veronika Vaclavik

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):690. doi:

Retina July 2012

Double Concentric Autofluorescence Ring in NR2E3 -p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa

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Pascal Escher; Hoai V. Tran; Veronika Vaclavik; Francois X. Borruat; Daniel F. Schorderet; Francis L. Munier
TAGS: autofluorescence, family, retinitis pigmentosa, eye, pigment
Invest. Ophthalmol. Vis. Sci.. 2012; 53(8):4754-4764. doi: https://doi.org/10.1167/iovs.11-8693

ARVO Annual Meeting Abstract March 2012

Phenotype/genotype Correlation Associated With A Novel Nonsense Glu20stop Mutation In The Rp2 Gene In A Three-generation Family With X-linked Retinitis Pigmentosa

Veronika Vaclavik; Francis L. Munier; Viet H. Tran; Daniel F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4547. doi:

ARVO Annual Meeting Abstract March 2012

Para-arterial Sparing Phenotype In Leber Congenital Amaurosis Associated With Homozygous p.R108X SPATA-7 Mutation

Anne KUONEN; Hoai V. TRAN; Veronika VACLAVIK; Daniel F. SCHORDERET; Francis L. MUNIER

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4590. doi:

Retina December 2011

Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations in PRPF8

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Cécilia G. Maubaret; Veronika Vaclavik; Rajarshi Mukhopadhyay; Naushin H. Waseem; Amanda Churchill; Graham E. Holder; Anthony T. Moore; Shomi S. Bhattacharya; Andrew R. Webster
TAGS: dominant autosomal hereditary disorder with incomplete penetrance, family, mutation, retinitis pigmentosa, carrying
Invest. Ophthalmol. Vis. Sci.. 2011; 52(13):9304-9309. doi: https://doi.org/10.1167/iovs.11-8372

ARVO Annual Meeting Abstract April 2011

Autofluorescence Findings Of A Novel Maculopathy In Patient With Spinocerebellar Ataxia Type 1 And Of A Cone - Rod Type Retinal Dysfunction In Three Generation Family With Spinocerebellar Ataxia Type 7

Veronika Vaclavik; Francis L. Munier; Daniel F. Schorderet; Francois-Xavier Borruat

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2993. doi:

ARVO Annual Meeting Abstract April 2011

Autofluorescence Study In NR2E3 p.G56R-linked Autosomal Dominant Retinitis Pigmentosa In A Single Kindred

Hoai V. Tran; Pascal Escher; Veronika Vaclavik; Isabelle Favre; Hasret Bajrami; Francois X. Borruat; Daniel F. Schorderet; Francis L. Munier

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):6604. doi:

Retina May 2008

Phenotypic Variation in Enhanced S-cone Syndrome

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Isabelle Audo; Michel Michaelides; Anthony G. Robson; Marko Hawlina; Veronika Vaclavik; Jennifer M. Sandbach; Magella M. Neveu; Chris R. Hogg; David M. Hunt; Anthony T. Moore; Alan C. Bird; Andrew R. Webster; Graham E. Holder
TAGS: mutation, phenotype, retinal cone, syndrome, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2008; 49(5):2082-2093. doi: https://doi.org/10.1167/iovs.05-1629

Retina March 2007

Mutations in the Gene Coding for the Pre-mRNA Splicing Factor, PRPF31 , in Patients with Autosomal Dominant Retinitis Pigmentosa

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Naushin H. Waseem; Veronika Vaclavik; Andrew Webster; Sharon A. Jenkins; Alan C. Bird; Shomi S. Bhattacharya
TAGS: genes, heterogeneous nuclear rna, mutation, retinitis pigmentosa, rna splicing
Invest. Ophthalmol. Vis. Sci.. 2007; 48(3):1330-1334. doi: https://doi.org/10.1167/iovs.06-0963

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New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

Novel compound heterozygote mutations in CYP2U1 can cause maculopathy with or without neurological signs of hereditary spastic paraplegia HSP56

Mutations in MFSD8 cause early and late onset Autosomal Recessive Macular Dystrophy in Switzerland

Consanguineous Tunisian Family With Enhanced-S-cone Syndrome

Para-arterial preservation of the inner retinal layer in Leber congenital amaurosis: an early and transient sign of retinal degeneration

Presence of a Triple Concentric Autofluorescence Ring in NR2E3 -p.G56R–Linked Autosomal Dominant Retinitis Pigmentosa (ADRP)

Mutation in EYS gene causes variable expressivity, ranging from Leber Congenital Amaurosis to adult onset Retinitis Pimentosa. Autofluorescence Study.

Autosomal recessive besotropinopathy : A novel mutation in BEST1 gene in a consanguinous family. Genotype/Phenotype correlation and follow up of 3 years

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland

Crystal deposits in the anterior lens cortex in Bietti crystalline corneoretinal dystrophy and first report of chroidal neovascular membrane in patient affected with Bietti

A novel heterozygote E2331* mutation in PRPF8 gene causes a severe phenotype of Retinitis Pigmentosa with early loss of visual acuity

Double Concentric Autofluorescence Ring in NR2E3 -p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa

Phenotype/genotype Correlation Associated With A Novel Nonsense Glu20stop Mutation In The Rp2 Gene In A Three-generation Family With X-linked Retinitis Pigmentosa

Para-arterial Sparing Phenotype In Leber Congenital Amaurosis Associated With Homozygous p.R108X SPATA-7 Mutation

Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations in PRPF8

Autofluorescence Findings Of A Novel Maculopathy In Patient With Spinocerebellar Ataxia Type 1 And Of A Cone - Rod Type Retinal Dysfunction In Three Generation Family With Spinocerebellar Ataxia Type 7

Autofluorescence Study In NR2E3 p.G56R-linked Autosomal Dominant Retinitis Pigmentosa In A Single Kindred

Phenotypic Variation in Enhanced S-cone Syndrome

Mutations in the Gene Coding for the Pre-mRNA Splicing Factor, PRPF31 , in Patients with Autosomal Dominant Retinitis Pigmentosa

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