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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

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

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

Exploring kinetics of the ganglion cell contribution to standard light-adapted flash electroretinograms by interocular comparison in patients with unilateral ganglion cell loss

Ahmed Ellabban; Harry Frederick Arbuthnott; Charlie Bosshard; Gordon Plant; Christopher J Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1534.

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

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

Epigenetic modifiers and their interactions with genetic polymorphisms in Intraocular Pressure and glaucoma

Xiaofan Jiang; Omar Abdul Rahman Mahroo; Dorota Skowronska-Krawczyk; Christopher J Hammond; Chris G Bell; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4626.

ARVO Annual Meeting Abstract June 2024

Full-field electroretinography reference limits from 420 healthy subjects, derived from transference and validation of reference data between electrode types and centers

Rebecca Baker; Shaun Leo; William Clowes; Anne Georgiou; Isabelle Chow; Xiaofan Jiang; Omar Abdul Rahman Mahroo; Antonio Calcagni; Magella Neveu; Anthony G Robson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5869.

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.

Retina May 2024

Sex Distributions in Non- ABCA4 Autosomal Macular Dystrophies

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Amit V. Mishra; Sandra Vermeirsch; Siying Lin; Maria P. Martin-Gutierrez; Mark Simcoe; Nikolas Pontikos; Elena Schiff; Thales A. C. de Guimarães; Pirro G. Hysi; Michel Michaelides; Gavin Arno; Andrew R. Webster; Omar A. Mahroo
TAGS: abca4 gene, cohort studies, macular dystrophy, sex distribution
Invest. Ophthalmol. Vis. Sci.. 2024; 65(5):9. https://doi.org/10.1167/iovs.65.5.9

Genetics February 2024

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease

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Malena Daich Varela; Elena Schiff; Samantha Malka; Genevieve Wright; Omar A. Mahroo; Andrew R. Webster; Michel Michaelides; Gavin Arno
TAGS: attenuation, exons, refsum disease, phytanic acid, rna splicing, reading (activity)
Invest. Ophthalmol. Vis. Sci.. 2024; 65(2):38. https://doi.org/10.1167/iovs.65.2.38

Includes: Supplemental Content

Retina February 2024

Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability

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Zakariya A. Jarrar; Khaldoon O. Al-Nosairy; Xiaofan Jiang; Ali Lamin; Dominic Wong; Abdus S. Ansari; Katie M. Williams; Sobha Sivaprasad; Michael B. Hoffmann; Pirro G. Hysi; Christopher J. Hammond; Omar A. Mahroo
TAGS: adult, cohort studies, ganglia, nose, twins
Invest. Ophthalmol. Vis. Sci.. 2024; 65(2):26. https://doi.org/10.1167/iovs.65.2.26

Clinical and Epidemiologic Research July 2023

Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study

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Zakariya A. Jarrar; Abdus Samad Ansari; Katie M. Williams; Dominic S. Wong; Pirro G. Hysi; Omar A. Mahroo; Christopher J. Hammond
TAGS: prevalence, spectral domain-optical coherence tomography, twin studies
Invest. Ophthalmol. Vis. Sci.. 2023; 64(10):9. https://doi.org/10.1167/iovs.64.10.9

Includes: Supplemental Content

Retina June 2023

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank

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Mark J. Simcoe; Gavin Arno; Pirro G. Hysi; Tony Ko; Michel Michaelides; Christopher J. Hammond; Praveen J. Patel; Omar A. Mahroo; Andrew R. Webster; for the UK Biobank Eye and Vision Consortium*
TAGS: abca4 gene, biobanks, genotype, mutation, retina, retinal diseases, alleles, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2023; 64(7):31. https://doi.org/10.1167/iovs.64.7.31

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Prevalence, concordance, and heritability of posterior vitreous detachment (PVD) in a twin population

Dominic Shou Huang Wong; Zakariya Jarrar; Abdus Samad Ansari; Katie Williams; Pirro G Hysi; Omar Abdul Rahman Mahroo; Christopher J Hammond

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):540.

ARVO Annual Meeting Abstract June 2023

A genome wide association study of electroretinogram oscillatory potentials

ZIHE XU; Xiaofan Jiang; Alex M Tanner; Talha Soorma; Christopher J Hammond; Omar Abdul Rahman Mahroo; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1663.

ARVO Annual Meeting Abstract June 2023

Comparison of central foveal signal intensity obtained in two autofluorescence modalities in CNGB3 -associated achromatopsia

Chun Fung Jeffrey Lam; Gavin Arno; Andrew R Webster; Michel Michaelides; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2076.

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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

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

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

Exploring kinetics of the ganglion cell contribution to standard light-adapted flash electroretinograms by interocular comparison in patients with unilateral ganglion cell loss

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

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

Epigenetic modifiers and their interactions with genetic polymorphisms in Intraocular Pressure and glaucoma

Full-field electroretinography reference limits from 420 healthy subjects, derived from transference and validation of reference data between electrode types and centers

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

Sex Distributions in Non- ABCA4 Autosomal Macular Dystrophies

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease

Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability

Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank

Prevalence, concordance, and heritability of posterior vitreous detachment (PVD) in a twin population

A genome wide association study of electroretinogram oscillatory potentials

Comparison of central foveal signal intensity obtained in two autofluorescence modalities in CNGB3 -associated achromatopsia

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