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Retina February 2025

Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A -Associated Retinopathy

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Gilad Allon; Siying Lin; Anthony G. Robson; Gavin Arno; Magella M. Neveu; Pirro G. Hysi; Michel Michaelides; Andrew R. Webster; Omar A. Mahroo
TAGS: cohort studies, diagnostic imaging, genetics, retinal diseases, visual acuity, electrophysiology, family, eye, vision
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):50. https://doi.org/10.1167/iovs.66.2.50

Genetics February 2025

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

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Kari Branham; Lassana Samarakoon; Isabelle Audo; Allison R. Ayala; Janet K. Cheetham; Stephen P. Daiger; Patty Dhooge; Jacque L. Duncan; Todd A. Durham; Abigail T. Fahim; Rachel M. Huckfeldt; Robert B. Hufnagel; Susanne Kohl; Ramiro S. Maldonado; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Juliana M. Ferraz Sallum; Mandeep S. Singh; Dror Sharon; Kimberly Stepien; Kaylie Jones; Christina Y. Weng; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: blindness, genes, genetics, retinal diseases, social survey
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):12. https://doi.org/10.1167/iovs.66.2.12

Includes: Supplemental Content

Retina January 2025

Retinal Sensitivity in KCNV2 -Associated Retinopathy

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Thales A. C. de Guimaraes; Isabela M. C. de Guimaraes; Manickam Nick Muthiah; Angelos Kalitzeos; Michel Michaelides
TAGS: retinal diseases, visual acuity, eye
Invest. Ophthalmol. Vis. Sci.. 2025; 66(1):26. https://doi.org/10.1167/iovs.66.1.26

Retina December 2024

Changes in Waveguiding Cone Photoreceptors and Color Vision in Patients With Diabetes Mellitus

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Megan Vaughan; Nicole Tay; Angelos Kalitzeos; Thomas Kane; Nav Singh; Adrian Zheng; Mira Dixit; Bishwanath Pal; Ranjan Rajendram; Konstantinos Balaskas; Mari Pilar Martin Gutierrez; Jose Carlo Artiaga; Georgios Koutsocheras; Khadra Adan; Marisa Rodriguez-Carmona; John L. Barbur; Michel Michaelides; Emily J. Patterson
TAGS: color vision, diabetes mellitus, photoreceptors, retinal cone, color
Invest. Ophthalmol. Vis. Sci.. 2024; 65(14):28. https://doi.org/10.1167/iovs.65.14.28

Includes: Supplemental Content

Retina December 2024

Patient-Reported Experience Measurements From Individuals With Inherited Retinal Disorders Involved in Observational Research

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Malena Daich Varela; Shaima Hashem; Dayyanah Sumodhee; Michel Michaelides
TAGS: observational studies, questionnaires, retinal diseases
Trans. Vis. Sci. Tech.. 2024; 13(12):9. https://doi.org/10.1167/tvst.13.12.9

Includes: Supplemental Content

Retina October 2024

Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

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Maureen G. Maguire; David G. Birch; Jacque L. Duncan; Allison R. Ayala; Lauren N. Ayton; Janet K. Cheetham; Peiyao Cheng; Todd A. Durham; Frederick L. Ferris, III; Carel B. Hoyng; Rachel M. Huckfeldt; Glenn J. Jaffe; Christine Kay; Eleonora M. Lad; Bart P. Leroy; Wendi Liang; Lee S. McDaniel; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Lassana Samarakoon; on behalf of the REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: cohort studies, eye, natural history, outcome measures, retinal degeneration, sample size, surrogate endpoints, vision, united states food and drug administration, perimetry
Trans. Vis. Sci. Tech.. 2024; 13(10):15. https://doi.org/10.1167/tvst.13.10.15

Includes: Supplemental Content

Retina October 2024

Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3 -Associated Achromatopsia

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Mohamed Katta; Michalis Georgiou; Navjit Singh; Angelos Kalitzeos; Alfredo Dubra; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, mosaicism, retinal cone, mosaic trial
Invest. Ophthalmol. Vis. Sci.. 2024; 65(12):6. https://doi.org/10.1167/iovs.65.12.6

Includes: Supplemental Content

Retina July 2024

CDH23 -Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History

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Thales A. C. de Guimaraes; Anthony G. Robson; Isabela M. C. de Guimaraes; Yannik Laich; Nancy Aychoua; Genevieve Wright; Angelos Kalitzeos; Omar A. Mahroo; Andrew R. Webster; Michel Michaelides
TAGS: natural history, retinal imaging, signs and symptoms, usher syndrome, eye
Invest. Ophthalmol. Vis. Sci.. 2024; 65(8):27. https://doi.org/10.1167/iovs.65.8.27

Retina June 2024

A Long-Term Retrospective Natural History Study of EFEMP1 -Associated Autosomal Dominant Drusen

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Thales A. C. de Guimarães; Angelos Kalitzeos; Omar A. Mahroo; Jacqueline van der Spuy; Andrew R. Webster; Michel Michaelides
TAGS: choroidal neovascularization, drusen, natural history, retinal diseases, retinal imaging, retrospective studies, eye, signs and symptoms, follow-up
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):31. https://doi.org/10.1167/iovs.65.6.31

ARVO Annual Meeting Abstract June 2024

Longitudinal structure-function (S-F) relationship between short-wavelength autofluorescence (SW-FAF) and macular sensitivity (MS) in ABCA4 -associated Stargardt (STGD1) disease

Folahan Adesola Ibukun; Yanzhao Wang; Artur V Cideciyan; David G Birch; Janet S Sunness; Isabelle S Audo; Michel Michaelides; Elias Traboulsi; SriniVas R Sadda; Michael S Ip; Hendrik P Scholl; Rupert Strauss; Xiangrong Kong

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3350.

ARVO Annual Meeting Abstract June 2024

Assessment of the splicing-effect, in vivo, of mutations in USH2A using long-read sequencing of cDNA from nasal epithelium

Gavin Arno; Shwetha Chandrasekhar; Siying Lin; Samantha Malka; Elena Schiff; Neringa Jurkute; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4685.

ARVO Annual Meeting Abstract June 2024

CDH23 -Associated Usher Syndrome: Clinical Features, Retinal Imaging and Natural History

Thales A C De Guimarães; Genevieve Wright; Isabela Maria Cabral de Guimaraes; Angelos Kalitzeos; Omar Abdul Rahman Mahroo; Andrew R Webster; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3089.

ARVO Annual Meeting Abstract June 2024

Adaptive optics (AO) retinal imaging delineates retinal changes in patients at all ETDRS stages of diabetic macular ischemia, undetectable by other structural and functional imaging in mild to moderate ischemia.

Nick Muthiah MD PhD; Angelos Kalitzeos; Travis Smith; Mark E Pennesi; Kunal K Dansingani; Peter Coffey; Lyndon da Cruz; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5929.

ARVO Annual Meeting Abstract June 2024

Spatial and anatomic parameters from SD-OCT and associations with best corrected visual acuity (BCVA) in ABCA4-associated Stargardt Disease (STGD1)

Xiangrong Kong; Yanzhao WANG; Folahan Adesola Ibukun; David G Birch; Elias Traboulsi; Janet S Sunness; Paul S Bernstein; Isabelle S Audo; Michel Michaelides; SriniVas R Sadda; Hendrik P Scholl; Eberhart Zrenner; Michael S Ip; Sheila K West; Artur V Cideciyan; Rupert Strauss

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2374.

ARVO Annual Meeting Abstract June 2024

IQCB1 -retinopathy:Clinical and Genetic Characterization, Natural History, and Novel observations

Sagnik Sen; Lorenzo Fabozzi; Kaoru Fujinami; Yu Fujinami-Yokokawa; Genevieve Wright; Andrew Webster; Omar Abdul Rahman Mahroo; Anthony G Robson; Michalis Georgiou; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4660.

ARVO Annual Meeting Abstract June 2024

Extending Eye2Gene to Quantify the Phenotypic Diversity and Similarity of 63 Inherited Retinal Diseases using an Embedding Approach

Bernardo Souza Mendes; William Woof; Biraja Ghoshal; Quang Nguyen; Gunjan Naik; Pallavi Bagga; Ismail Moghul; Dun Jack Fu; Mital Shah; Saoud Al-Khuzaei; Thales Antonio Cabral De Guimaraes; Malena Daich Varela; Sagnik Sen; Konstantinos Balaskas; Michel Michaelides; Nikolas Pontikos

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4653.

ARVO Annual Meeting Abstract June 2024

Creating the world’s largest dataset of segmented Inherited Retinal Disease features by bootstrapping manual annotations with AI

William Woof; Saoud Al-Khuzaei; Malena Daich Varela; Thales A C De Guimarães; Sagnik Sen; Pallavi Bagga; Gunjan Naik; Konstantinos Balaskas; Michel Michaelides; Nikolas Pontikos

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3734.

ARVO Annual Meeting Abstract June 2024

Non-syndromic retinal dystrophy associated with biallelic mutation of SUMF1 and reduced leukocyte sulphatase activity

Siying Lin; Anthony G Robson; Dorothy A Thompson; Derek Burke; Robin Lachmann; Emma Footitt; Karolina M Stepien; Elena Schiff; Michel Michaelides; Omar Abdul Rahman Mahroo; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1521.

ARVO Annual Meeting Abstract June 2024

In vitro modelling of autosomal dominant Doyne honeycomb retinal dystrophy caused by the p.R345W EFEMP1 mutation and development of a gene-directed therapeutic

Olivia Farah Rezek; Beatriz Sanchez Pintado; Julio Cesar Corral Serrano; Thales A C De Guimarães; Michel Michaelides; Amanda-Jayne Francis Carr; Michael E Cheetham; Jacqueline van der Spuy

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1317.

ARVO Annual Meeting Abstract June 2024

Safety, Tolerability, and Efficacy of Tinlarebant from the 24-Month Phase 2 study in Adolescent Patients Affected by Stargardt Disease

John R Grigg; Fred Chen; Ta-Ching Chen; Robyn V Jamieson; Hendrik P Scholl; Michel Michaelides; Jana Zernant; Rando Allikmets; Quan Dong Nguyen; Nathan L Mata

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1026.

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Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A -Associated Retinopathy

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

Retinal Sensitivity in KCNV2 -Associated Retinopathy

Changes in Waveguiding Cone Photoreceptors and Color Vision in Patients With Diabetes Mellitus

Patient-Reported Experience Measurements From Individuals With Inherited Retinal Disorders Involved in Observational Research

Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3 -Associated Achromatopsia

CDH23 -Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History

A Long-Term Retrospective Natural History Study of EFEMP1 -Associated Autosomal Dominant Drusen

Longitudinal structure-function (S-F) relationship between short-wavelength autofluorescence (SW-FAF) and macular sensitivity (MS) in ABCA4 -associated Stargardt (STGD1) disease

Assessment of the splicing-effect, in vivo, of mutations in USH2A using long-read sequencing of cDNA from nasal epithelium

CDH23 -Associated Usher Syndrome: Clinical Features, Retinal Imaging and Natural History

Adaptive optics (AO) retinal imaging delineates retinal changes in patients at all ETDRS stages of diabetic macular ischemia, undetectable by other structural and functional imaging in mild to moderate ischemia.

Spatial and anatomic parameters from SD-OCT and associations with best corrected visual acuity (BCVA) in ABCA4-associated Stargardt Disease (STGD1)

IQCB1 -retinopathy:Clinical and Genetic Characterization, Natural History, and Novel observations

Extending Eye2Gene to Quantify the Phenotypic Diversity and Similarity of 63 Inherited Retinal Diseases using an Embedding Approach

Creating the world’s largest dataset of segmented Inherited Retinal Disease features by bootstrapping manual annotations with AI

Non-syndromic retinal dystrophy associated with biallelic mutation of SUMF1 and reduced leukocyte sulphatase activity

In vitro modelling of autosomal dominant Doyne honeycomb retinal dystrophy caused by the p.R345W EFEMP1 mutation and development of a gene-directed therapeutic

Safety, Tolerability, and Efficacy of Tinlarebant from the 24-Month Phase 2 study in Adolescent Patients Affected by Stargardt Disease

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