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Review June 2020

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

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Debra A. Thompson; Alessandro Iannaccone; Robin R. Ali; Vadim Y. Arshavsky; Isabelle Audo; James W. B. Bainbridge; Cagri G. Besirli; David G. Birch; Kari E. Branham; Artur V. Cideciyan; Steven P. Daiger; Deniz Dalkara; Jacque L. Duncan; Abigail T. Fahim; John G. Flannery; Roberto Gattegna; John R. Heckenlively; Elise Heon; K. Thiran Jayasundera; Naheed W. Khan; Henry Klassen; Bart P. Leroy; Robert S. Molday; David C. Musch; Mark E. Pennesi; Simon M. Petersen-Jones; Eric A. Pierce; Rajesh C. Rao; Thomas A. Reh; Jose A. Sahel; Dror Sharon; Paul A. Sieving; Enrica Strettoi; Paul Yang; David N. Zacks; The Monaciano Consortium
TAGS: outcome measures, retinal diseases, surrogate endpoints, genetics, vision, natural history, ethics, gene therapy
Trans. Vis. Sci. Tech.. 2020; 9(7):2. doi: https://doi.org/10.1167/tvst.9.7.2

ARVO Annual Meeting Abstract July 2019

Functional characterization of Asn965 and Asn1974 variants in the Walker-A motif of ABCA4 associated with Stargardt Disease

Fabian Garces; Laurie L Molday; Gilmar Gutierrez; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2333. doi:

ARVO Annual Meeting Abstract July 2019

Dual Adeno-Associated Virus Vector mediated gene therapy for autosomal recessive Stargardt Disease

Frank M Dyka; Laurie L Molday; Vince A Chiodo; Robert S Molday; William Hauswirth

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3402. doi:

ARVO Annual Meeting Abstract July 2018

Molecular Characterization of Missense Mutations in Nucleotide Binding Domains of ABCA4 Associated with Stargardt Disease

Robert S Molday; Laurie Molday

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5392. doi:

ARVO Annual Meeting Abstract July 2018

Pathogenic Mechanisms Responsible for Stargardt Disease Associated with the N965S Missense Mutation in ABCA4

Laurie L Molday; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5394. doi:

ARVO Annual Meeting Abstract July 2018

Biochemical analysis of mutations in transmembrane domain one of ABCA4 responsible for Stargardt Macular Degeneration

Fabian Garces; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):367. doi:

ARVO Annual Meeting Abstract July 2018

Identification of protein components of the rod outer segment plasma membrane by label-free protein correlation profiling

Nikolai P Skiba; Laurie Molday; Robert S Molday; Vadim Y Arshavsky

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):605. doi:

Biochemistry and Molecular Biology May 2018

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

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Fabian Garces; Kailun Jiang; Laurie L. Molday; Heidi Stöhr; Bernhard H. Weber; Christopher J. Lyons; David Maberley; Robert S. Molday
TAGS: adenosine triphosphatases, mutation, phenotype, stargardt's disease, proteins, missense mutation
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2305-2315. doi: https://doi.org/10.1167/iovs.17-23364

ARVO Annual Meeting Abstract September 2016

Clinical, genetic and functional study of ABCA4 mutations in Stargardt patients

Kailun Jiang; Laurie L Molday; Heidi Barbara Stoehr; Bernhard HF Weber; David Maberley; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3174. doi:

ARVO Annual Meeting Abstract September 2016

Elucidating the role of Retinal Pigment Epithelium (RPE)-specific ABCA4 in Stargardt disease

Tamara Lee Lenis; Zhichun Jiang; Shanta Sarfare; Andrew Le; Shannan Eddington; Dean Bok; Robert S Molday; Steven Nusinowitz; Michael Redmond; Gabriel H Travis; Roxana A Radu

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3177. doi:

ARVO Annual Meeting Abstract September 2016

Localization and Functional Analysis of ABCA4 Variants Associated with Stargardt Disease

Laurie L Molday; Rando Allikmets; Robert S Molday

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3191. doi:

Review February 2015

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

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Debra A. Thompson; Robin R. Ali; Eyal Banin; Kari E. Branham; John G. Flannery; David M. Gamm; William W. Hauswirth; John R. Heckenlively; Alessandro Iannaccone; K. Thiran Jayasundera; Naheed W. Khan; Robert S. Molday; Mark E. Pennesi; Thomas A. Reh; Richard G. Weleber; David N. Zacks; for the Monaciano Consortium
TAGS: retinal degeneration, retinal dystrophies, gene therapy, universities, comprehension, transplantation
Invest. Ophthalmol. Vis. Sci.. 2015; 56(2):918-931. doi: https://doi.org/10.1167/iovs.14-16049

ARVO Annual Meeting Abstract April 2014

The Role of Na + /Ca 2+ , K + exchanger 1 in Mammalian Vision

Frans Vinberg; Tian Wang; Robert S Molday; Jeannie Chen; Vladimir J Kefalov

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):5957. doi:

ARVO Annual Meeting Abstract March 2012

Disruption of the P4-ATPase Aminophospholipid Flippase Atp8a2 Gene Suggests a Role for Phosphatidylserine in Photoreceptor Outer Segments

Jonathan A. Coleman; Hidayat R. Djajadi; Laurie L. Molday; Robert S. Molday

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):743. doi:

ARVO Annual Meeting Abstract March 2012

ABCA4 Linked To Stargardt Disease is a Novel ABC Transporter of N-retinylidene-phosphatidylethanolamine and Phosphatidylethenolamine

Robert S. Molday; Stepan Lenevich; Faraz Quazi

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):3358. doi:

ARVO Annual Meeting Abstract April 2011

Comparative Quantification Of Lipofuscin Deposits In the ABCA4 Knock Out Mouse Model Of STGD1 Utilizing Fluorescence Confocal Scanning Laser Ophthalmoscopy And Fourier Domain Optical Coherence Tomography

Lukasz Szczygiel; Ali Issaei; Nima Hossein-Javaheri; Laurie L. Molday; Robert S. Molday; Marinko V. Sarunic

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1356. doi:

ARVO Annual Meeting Abstract April 2011

AAV Variant-mediated Delivery of Retinoschisin Via Intravitreal Injection for Treatment of X-linked Retinoschisis

John G. Flannery; Leah Byrne; Meike Visel; Trevor Lee; Ryan R. Klimczak; William W. Hauswirth; Bernhard H. Weber; Robert S. Molday

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1404. doi:

Retina June 2009

In Vivo Imaging of the Mouse Model of X-Linked Juvenile Retinoschisis with Fourier Domain Optical Coherence Tomography

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Jing Xu; Laurie L. Molday; Robert S. Molday; Marinko V. Sarunic
TAGS: diagnostic imaging, mice, optical coherence tomography, x-linked retinoschisis, histology
Invest. Ophthalmol. Vis. Sci.. 2009; 50(6):2989-2993. doi: https://doi.org/10.1167/iovs.08-2542

Biochemistry and Molecular Biology December 2007

Novel Retinal and Cone Photoreceptor Transcripts Revealed by Human Macular Expression Profiling

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Daniel M. Hornan; Stuart N. Peirson; Alison J. Hardcastle; Robert S. Molday; Michael E. Cheetham; Andrew R. Webster
TAGS: gene expression profiling, genes, macula densa, macula lutea, molecular profiling, retina, retinal cone, hdac9 gene, polymerase chain reaction, proteins
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5388-5396. doi: https://doi.org/10.1167/iovs.07-0355

Includes: Supplemental Content

Biochemistry and Molecular Biology June 2007

Coexpression and Interaction of Wild-type and Missense RS1 Mutants Associated with X-Linked Retinoschisis: Its Relevance to Gene Therapy

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Frank M. Dyka; Robert S. Molday
TAGS: bodily secretions, disulfides, gene therapy, proteins, x-linked retinoschisis, fluorescent antibody technique
Invest. Ophthalmol. Vis. Sci.. 2007; 48(6):2491-2497. doi: https://doi.org/10.1167/iovs.06-1465

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Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

Functional characterization of Asn965 and Asn1974 variants in the Walker-A motif of ABCA4 associated with Stargardt Disease

Dual Adeno-Associated Virus Vector mediated gene therapy for autosomal recessive Stargardt Disease

Molecular Characterization of Missense Mutations in Nucleotide Binding Domains of ABCA4 Associated with Stargardt Disease

Pathogenic Mechanisms Responsible for Stargardt Disease Associated with the N965S Missense Mutation in ABCA4

Biochemical analysis of mutations in transmembrane domain one of ABCA4 responsible for Stargardt Macular Degeneration

Identification of protein components of the rod outer segment plasma membrane by label-free protein correlation profiling

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

Clinical, genetic and functional study of ABCA4 mutations in Stargardt patients

Elucidating the role of Retinal Pigment Epithelium (RPE)-specific ABCA4 in Stargardt disease

Localization and Functional Analysis of ABCA4 Variants Associated with Stargardt Disease

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

The Role of Na + /Ca 2+ , K + exchanger 1 in Mammalian Vision

Disruption of the P4-ATPase Aminophospholipid Flippase Atp8a2 Gene Suggests a Role for Phosphatidylserine in Photoreceptor Outer Segments

ABCA4 Linked To Stargardt Disease is a Novel ABC Transporter of N-retinylidene-phosphatidylethanolamine and Phosphatidylethenolamine

Comparative Quantification Of Lipofuscin Deposits In the ABCA4 Knock Out Mouse Model Of STGD1 Utilizing Fluorescence Confocal Scanning Laser Ophthalmoscopy And Fourier Domain Optical Coherence Tomography

AAV Variant-mediated Delivery of Retinoschisin Via Intravitreal Injection for Treatment of X-linked Retinoschisis

In Vivo Imaging of the Mouse Model of X-Linked Juvenile Retinoschisis with Fourier Domain Optical Coherence Tomography

Novel Retinal and Cone Photoreceptor Transcripts Revealed by Human Macular Expression Profiling

Coexpression and Interaction of Wild-type and Missense RS1 Mutants Associated with X-Linked Retinoschisis: Its Relevance to Gene Therapy

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