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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.

ARVO Annual Meeting Abstract June 2024

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Samantha Malka; Siying Lin; Elena Schiff; Genevieve Wright; Michel Michaelides; Omar Abdul Rahman Mahroo; Jessica Gardner; Alison J Hardcastle; Anne Marie Berry; Riccardo Sangermano; Carlo Rivolta; Mathieu Quinodoz; Kinga Maria Bujakowska; Radha Ayyagari; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4663.

ARVO Annual Meeting Abstract June 2024

Mental Well-Being, Loneliness and Vision-Related Quality of Life in Adults with Inherited Macular Disease

Michael D. Crossland; Marc S Tibber; Tessa M Dekker; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5983.

ARVO Annual Meeting Abstract June 2024

Modelling the rod-driven electroretinogram a-wave elicited by strong flashes: insights from patients with selected post-phototransduction impairments

Omar Abdul Rahman Mahroo; Xiaofan Jiang; Shaun Leo; Pirro G Hysi; Thales A C De Guimarães; Anthony G Robson; Christopher J Hammond; Michel Michaelides; Andrew Webster; John Robson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5854.

ARVO Annual Meeting Abstract June 2024

Importance of phenotype in guiding re-interrogation of genetic results to achieve the correct molecular diagnosis in retinal disease

Mohammad Anas; Elena Schiff; Neringa Jurkute; Jonathan Virgo; Gavin Arno; Anthony G Robson; Michel Michaelides; Andrew Webster; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5289.

ARVO Annual Meeting Abstract June 2024

Retinal Degeneration Associated With RPGRIP1: A Phenotypic Spectrum, and Genotype–Phenotype Correlation.

Hind Almushattat; Michalis Georgiou; Jonathan Hensman; Filip Van Den Broeck; Carel C B Hoyng; Alberta Thiadens; L. Ingeborgh van den Born; Maria Genderen; Bart Peter Leroy; Michel Michaelides; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5121.

ARVO Annual Meeting Abstract June 2024

SD-OCT Features and Macular Sensitivity in ABCA4 -related Stargardt disease (STGD1)

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

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):975.

Retina June 2024

Self-Reported Functional Vision in USH2A -Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

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Bela Parekh; Jacque L. Duncan; Lassana Samarakoon; Michele Melia; Maria Fernanda Abalem; Chris A. Andrews; Isabelle Audo; Allison R. Ayala; Chris Bradley; Janet K. Cheetham; Gislin Dagnelie; Todd A. Durham; Rachel M. Huckfeldt; Gabrielle D. Lacy; Brett Malbin; Michel Michaelides; David C. Musch; Nicholas Peck-Dimit; Katarina Stingl; Christina Y. Weng; Alex Z. Zmejkoski; K. Thiran Jayasundera; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: michigan, questionnaires, retinal degeneration, self-report, vision, vision tests
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):5. https://doi.org/10.1167/iovs.65.6.5

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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

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Mental Well-Being, Loneliness and Vision-Related Quality of Life in Adults with Inherited Macular Disease

Modelling the rod-driven electroretinogram a-wave elicited by strong flashes: insights from patients with selected post-phototransduction impairments

Importance of phenotype in guiding re-interrogation of genetic results to achieve the correct molecular diagnosis in retinal disease

Retinal Degeneration Associated With RPGRIP1: A Phenotypic Spectrum, and Genotype–Phenotype Correlation.

SD-OCT Features and Macular Sensitivity in ABCA4 -related Stargardt disease (STGD1)

Self-Reported Functional Vision in USH2A -Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

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