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ARVO Annual Meeting Abstract June 2025

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

Julio Cesar Corral Serrano; Veronika Vaclavik; Van De Sompele Stijn; Karolina Kaminska; Katarina Jovanovic; Pascal Escher; Filip Van den Broeck; Francesca Cancellieri; Vasileios Toulis; Bart Peter Leroy; Julie De Zaeytijd; Daniele Ottaviani; Mathieu Quinodoz; Gabriela Bordeanu; Alison J Hardcastle; Frauke Coppieters; Hoai Viet Tran; Michael E Cheetham; Carlo Rivolta; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):4366.

ARVO Annual Meeting Abstract June 2025

Natural History of Retinitis Pigmentosa 28 in a Western Population: a preliminary report.

Francesco Merlo Pich; Lasse Wolfram; Juan Carlos Romo-Aguas; Ajoy Vincent; Georg Ansari; Guylène Le Meur; Vasiliki Kalatzis; Rajarshi Mukherjee; Corinne Kostic; Yvan Arsenijevic; Veronika Vaclavik; Isabelle Meunier; Maximilian Pfau; Elise Heon; Katarina Stingl; Michel Michaelides; Hoai Viet Tran

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3151.

ARVO Annual Meeting Abstract June 2025

Splice site variant c.1092+ 5G>A in FLVCR1 gene causes an isolated retinal dystrophy presenting with early onset and variable expressivity.

Veronika Vaclavik; Carlo Rivolta; Mathieu Quinodoz; Francesca Cancellieri; Karolina Kaminska; Beatrice Bocquet; Hoai Viet Tran; Isabelle Meunier

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1459.

ARVO Annual Meeting Abstract June 2025

Variants in three genes encoding distinct subunits of the vesicular AP-5 complex are novel causes of recessive macular dystrophy

Karolina Kaminska; Francesca Cancellieri; Mathieu Quinodoz; Abigail R. Moye; Miriam Bauwens; Siying Lin; Laura Kuehlewein; Bart Peter Leroy; Omar Abdul Rahman Mahroo; Maximilian Pfau; Sten Andreasson; Hendrik P Scholl; Carmen Ayuso; José M. Millán; Dror Sharon; Miltiadis K. Tsilimbaris; Hoai Viet Tran; Tamar Ben-Yosef; Elfride De Baere; Andrew Webster; Gavin Arno; Panos Sergouniotis; Susanne Kohl; Cristina Santos; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1919.

ARVO Annual Meeting Abstract June 2024

A feasibility study of a rare variant association test on inherited retinal diseases (IRDs)

Elifnaz Celik; Mathieu Quinodoz; Francesca Cancellieri; Karolina Kaminska; Bence Gyorgy; Maximilian Pfau; Lucas Janeschitz-Kriegl; Hoai Viet Tran; Veronika Vaclavik; Hendrik P Scholl; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4672.

Genetics April 2020

Retinal Structure in RPE65 -Associated Retinal Dystrophy

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Neruban Kumaran; Michalis Georgiou; James W. B. Bainbridge; Mette Bertelsen; Michael Larsen; Fiona Blanco-Kelly; Carmen Ayuso; Hoai Viet Tran; Francis L. Munier; Angelos Kalitzeos; Michel Michaelides
TAGS: retina, retinal dystrophies, rpe65 protein, spectral domain-optical coherence tomography, eye, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2020; 61(4):47. https://doi.org/10.1167/iovs.61.4.47

Includes: Supplemental Content

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.

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.

ARVO Annual Meeting Abstract June 2017

Subfoveal nodule in Coats disease: towards an updated classification predicting visual prognosis

Alejandra Daruich; Alexandre Moulin; Hoai Viet Tran; Alexandre Matet; Francis L Munier

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2423.

Retina December 2016

Autofluorescence Lifetimes in Patients With Choroideremia Identify Photoreceptors in Areas With Retinal Pigment Epithelium Atrophy

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Chantal Dysli; Sebastian Wolf; Hoai Viet Tran; Martin S. Zinkernagel
TAGS: atrophy, autofluorescence, diagnostic imaging, fluorescence, photoreceptors, choroideremia, retinal pigment epithelium
Invest. Ophthalmol. Vis. Sci.. 2016; 57(15):6714-6721. https://doi.org/10.1167/iovs.16-20392

ARVO Annual Meeting Abstract September 2016

Extramacular fibrosis in Coats’ disease

Alejandra Daruich; Alexandre Matet; Marie-Claire Gaillard; Hoai Viet Tran; Francis L Munier

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):160.

Letters to the Editor April 2016

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

PDF

Pascal Escher; Veronika Vaclavik; Francis L. Munier; H. Viet Tran
TAGS: autofluorescence, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2016; 57(4):2001-2002. 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.

Retina July 2012

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

PDF

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. https://doi.org/10.1167/iovs.11-8693

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.

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.

ARVO Annual Meeting Abstract April 2010

Late Onset Cystoid Macular Oedema Following Surgery for Radiation Induced Cataract in Patient With Retinoblastoma

H. V. Tran; M. C. Gaillard; A. Balmer; F. L. Munier

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):2076.

ARVO Annual Meeting Abstract April 2010

Clinical Spectrum of Patients With AIPL1 Mutations in Recessive Inherited Retinal Dystrophies

M. H. Tan; H. V. Tran; A. J. Smith; R. Henderson; I. Russell-Eggitt; A. G. Robson; A. R. Webster; G. E. Holder; R. R. Ali; A. T. Moore

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):3087.

ARVO Annual Meeting Abstract April 2009

Development of Cone-Specific Promoters for Use Within Recombinant AAV Vectors

L. S. Carvalho; H. V. Tran; A. J. Smith; R. R. Ali

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):3021.

ARVO Annual Meeting Abstract April 2009

Induction of CD200 Signalling Reduces Inflammatory Cell Infiltration and Inhibits Laser-induced Choroidal Neovascularization

S. J. Robbie; S. E. Barker; D. A. Copland; J. Phillips; Y. Duran; H. V. Tran; A. J. Smith; R. R. Ali; A. D. Dick; J. W. B. Bainbridge

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):3759.

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A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

Natural History of Retinitis Pigmentosa 28 in a Western Population: a preliminary report.

Splice site variant c.1092+ 5G>A in FLVCR1 gene causes an isolated retinal dystrophy presenting with early onset and variable expressivity.

Variants in three genes encoding distinct subunits of the vesicular AP-5 complex are novel causes of recessive macular dystrophy

A feasibility study of a rare variant association test on inherited retinal diseases (IRDs)

Retinal Structure in RPE65 -Associated Retinal Dystrophy

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

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

Subfoveal nodule in Coats disease: towards an updated classification predicting visual prognosis

Autofluorescence Lifetimes in Patients With Choroideremia Identify Photoreceptors in Areas With Retinal Pigment Epithelium Atrophy

Extramacular fibrosis in Coats’ disease

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.

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

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

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

Late Onset Cystoid Macular Oedema Following Surgery for Radiation Induced Cataract in Patient With Retinoblastoma

Clinical Spectrum of Patients With AIPL1 Mutations in Recessive Inherited Retinal Dystrophies

Development of Cone-Specific Promoters for Use Within Recombinant AAV Vectors

Induction of CD200 Signalling Reduces Inflammatory Cell Infiltration and Inhibits Laser-induced Choroidal Neovascularization

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