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ARVO Annual Meeting Abstract June 2022

Genetic bases of retinoblastoma from liquid biopsies

Francesca Cancellieri; Virginie G. Peter; Mathieu Quinodoz; Christina Stathopoulos; Francis L. Munier; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):503 – A0080. doi:

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

Retina December 2021

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

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Monika K. Grudzinska Pechhacker; Samuel G. Jacobson; Arlene V. Drack; Matteo Di Scipio; Ine Strubbe; Wanda Pfeifer; Jacque L. Duncan; Helene Dollfus; Nathalie Goetz; Jean Muller; Andrea L. Vincent; Tomas S. Aleman; Anupreet Tumber; Caroline Van Cauwenbergh; Elfride De Baere; Emma Bedoukian; Bart P. Leroy; Jason T. Maynes; Francis L. Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon
TAGS: natural history, phenotype, retinal degeneration, vision, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):26. doi: https://doi.org/10.1167/iovs.62.15.26

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. doi: https://doi.org/10.1167/iovs.61.4.47

Includes: Supplemental Content

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. doi:

ARVO Annual Meeting Abstract June 2017

Automatic Segmentation of Retinoblastoma in Fundus Image Photography using Convolutional Neural Networks

Carlos Ciller; Sandro Ivo S. De Zanet; Stefanos Apostolopoulos; Francis L Munier; Sebastian Wolf; Jean-Philippe Thiran; Meritxell Bach Cuadra; Raphael Sznitman

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3332. 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

Development of a technique for assessment of retinoblastoma cell dissemination after intravitreal injection of chemotherapy

URSULA ANDREA WINTER; Michael Nicolas; Francis L Munier; Mariana Sgroi; Adriana Fandiño; Guillermo Chantada; Paula Schaiquevich

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3333. doi:

ARVO Annual Meeting Abstract June 2017

Anti-VEGF therapy for secondary neovascularization following intra-arterial chemotherapy for advanced retinoblastoma

Francis L Munier; Marie-Claire Gaillard; Francesco Puccinelli; Ciara Bergin; Susan Houghton; Alexandre Moulin; Maja Beck-Popovic

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3338. 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:

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. doi:

ARVO Annual Meeting Abstract September 2016

Concomitant first line intra-arterial (IAC) and intra-vitreal (IVC) chemotherapy with melphalan for unilateral group D retinoblastoma (Rb) with diffuse vitreous seeding at presentation

Francis L Munier; Marie-Claire Gaillard; Christina Stathopoulos; Maja Beck-Popovic; Francesco Puccinelli; Susan L Houghton

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3682. doi:

ARVO Annual Meeting Abstract September 2016

Multimodal analysis of macular toxicity following intra-arterial (IAC) and/or intravitreal (IVC) melphalan in retinoblastoma (Rb): evidence for infra-clinical changes by optic coherence tomography (OCT) and adaptive optics (AO)

yousra Falfoul; Ali Dirani; Marie-Claire Gaillard; Francesco Puccinelli; Maja Beck-Popovic; Francis L Munier

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3683. doi:

ARVO Annual Meeting Abstract September 2016

Combined Melphalan/Topotecan intra-arterial chemotherapy (MT-IAC) for salvage in retinoblastoma relapse following melphalan intra-arterial chemotherapy (M-IAC)

Anthony Manassero; Marie-Claire Gaillard; christina stathopoulos; sue houghton; francesco puccinelli; maja Beck-Popovic; Francis L Munier

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3684. 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

The Classification of Vitreous Seeds in Retinoblastoma: Response to Intravitreal Melphalan

Jasmine H Francis; David H Abramson; Marie-Claire Gaillard; Brian P Marr; Maya Beck-Popovic; Francis L Munier

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1290. doi:

ARVO Annual Meeting Abstract June 2015

Aqueous seeding: fall of the ultimate intraocular retinoblastoma sanctuary by a new in situ chemotherapy technique

Francis L Munier; Marie-Claire Gaillard; Sarah Decembrini; Maja Beck-Popovic

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1663. doi:

ARVO Annual Meeting Abstract June 2015

Management of retinal detachment after first-line intra-arterial chemotherapy for advanced retinoblastoma

Jelena Potic; Jean-Antoine C Pournaras; Marie-Claire Gaillard; Thomas Wolfensberger; Maya Beck-Popovic; Francis L Munier

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1665. doi:

ARVO Annual Meeting Abstract June 2015

Recessive mutations in the polyglutamylase TTLL5, present in photoreceptor cells and spermatozoa, cause cone-rod degeneration and incompletely penetrant male infertility.

Nicola Bedoni; Lonneke Haer-Wigman; Manir Ali; Frans Cremers; Sten Andreasson; Francis L Munier; Carlo Rivolta; TTLL5 European Retinal Disease Consortium Study Group

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2889. doi:

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:

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Genetic bases of retinoblastoma from liquid biopsies

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

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Retinal Structure in RPE65 -Associated Retinal Dystrophy

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

Automatic Segmentation of Retinoblastoma in Fundus Image Photography using Convolutional Neural Networks

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

Development of a technique for assessment of retinoblastoma cell dissemination after intravitreal injection of chemotherapy

Anti-VEGF therapy for secondary neovascularization following intra-arterial chemotherapy for advanced retinoblastoma

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

Extramacular fibrosis in Coats’ disease

Concomitant first line intra-arterial (IAC) and intra-vitreal (IVC) chemotherapy with melphalan for unilateral group D retinoblastoma (Rb) with diffuse vitreous seeding at presentation

Multimodal analysis of macular toxicity following intra-arterial (IAC) and/or intravitreal (IVC) melphalan in retinoblastoma (Rb): evidence for infra-clinical changes by optic coherence tomography (OCT) and adaptive optics (AO)

Combined Melphalan/Topotecan intra-arterial chemotherapy (MT-IAC) for salvage in retinoblastoma relapse following melphalan intra-arterial chemotherapy (M-IAC)

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

The Classification of Vitreous Seeds in Retinoblastoma: Response to Intravitreal Melphalan

Aqueous seeding: fall of the ultimate intraocular retinoblastoma sanctuary by a new in situ chemotherapy technique

Management of retinal detachment after first-line intra-arterial chemotherapy for advanced retinoblastoma

Recessive mutations in the polyglutamylase TTLL5, present in photoreceptor cells and spermatozoa, cause cone-rod degeneration and incompletely penetrant male infertility.

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

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