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Genetics June 2025

Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness

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Rola Ba-Abbad; Igor V. Peshenko; Malena Daich Varela; Siying Lin; Gavin Arno; Omar A. Mahroo; Catherine Egan; Anthony G. Robson; Elena V. Olshevskaya; Alexander M. Dizhoor; Andrew R. Webster
TAGS: alleles, night blindness, retinal cone, electroretinography, rod photoreceptors, phenotype, pathophysiology
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):22. https://doi.org/10.1167/iovs.66.6.22

Includes: Supplemental Content

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology June 2025

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder

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Neringa Jurkute; Heiko Brennenstuhl; Monika Kustermann; Lindsey Van Haute; Christian D. Mutti; Enrico Bugiardini; Takayuki Handa; Masaru Shimura; Axel Petzold; James Acheson; Anthony G. Robson; William L. Macken; Michael G. Hanna; Robert D. S. Pitceathly; Ashirwad Merve; Urania Kotzaeridou; Stefan Kölker; Michael Freilinger; Marcus Erdler; Reginald E. Bittner; Johannes A. Mayr; Yasushi Okazaki; Kei Murayama; Holger Prokisch; Andrew R. Webster; Michal Minczuk; Gavin Arno; Berthold Pemp; Georg F. Hoffmann; Wolfgang M. Schmidt; Patrick Yu-Wai-Man
TAGS: family, mitochondrial diseases, optic atrophy, phenotype, mitochondria, optic nerve disorders, respiratory chain
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):17. https://doi.org/10.1167/iovs.66.6.17

Includes: Supplemental Content

Retina May 2025

Discrepancies Between Autofluorescence Imaging Modalities in CNGB3 -Associated Achromatopsia and Correlation With Ellipsoid Zone Continuity

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Haseeb N. Akhtar; Chun Fung Jeffrey Lam; Siying Lin; Gavin Arno; Jose S. Pulido; Andrew R. Webster; Michel Michaelides; Omar A. Mahroo
TAGS: achromatopsia, autofluorescence, diagnostic imaging, eye
Trans. Vis. Sci. Tech.. 2025; 14(5):24. https://doi.org/10.1167/tvst.14.5.24

Genetics April 2025

Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A -Associated Usher Syndrome

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Juan C. Romo-Aguas; Thales A. C. de Guimarães; Angelos Kalitzeos; Nancy Aychoua; Chrysanthi Tsika; Anthony G. Robson; Yu Fujinami-Yokokawa; Kaoru Fujinami; Omar A. Mahroo; Andrew R. Webster; Michel Michaelides
TAGS: eye, follow-up, genetics, natural history, usher syndrome, cohort studies, phenotype, retinal imaging, diagnostic imaging
Invest. Ophthalmol. Vis. Sci.. 2025; 66(4):60. https://doi.org/10.1167/iovs.66.4.60

Includes: Supplemental Content

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

Visual Neuroscience November 2024

The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism

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Zihe Xu; Jit Kai Tan; Krishnika Vetrivel; Xiaofan Jiang; Shaun M. Leo; Taha Bhatti; Ambreen Tariq; Andrew R. Webster; Anthony G. Robson; Christopher J. Hammond; Pirro G. Hysi; Omar A. Mahroo
TAGS: electroretinography, genetic risk, myopia, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2024; 65(13):21. https://doi.org/10.1167/iovs.65.13.21

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

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

Biallelic mutations in COQ8B ( ADCK4 ) lead to non-syndromic retinitis pigmentosa in multiple families

Ana Belen Iglesias Romero; Karolina Kaminska; Cristina Santos; Siying Lin; Mathieu Quinodoz; Marc Folcher; Joaquim Tomaz Calado; Gavin Arno; Andrew R Webster; Ana Berta Sousa; Luisa C. Santos; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1523.

ARVO Annual Meeting Abstract June 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

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 June 2023

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

PDF

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

IMPG2 -related maculopathy

Johannes Birtel; Richard Caswell; Samantha R De Silva; Philipp Herrmann; Salwah Rehman; Andrew J Lotery; Omar Abdul Rahman Mahroo; Michel Michaelides; Andrew R Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4643.

ARVO Annual Meeting Abstract June 2023

ABCA4 variant phasing and complete haplo-genotype analysis for singletons using Cas9 targeted ultra-long read nanopore sequencing

Gavin Arno; Benjamin McClinton; Neringa Jurkute; Fabiana Louise Motta; Manir Ali; Christopher M Watson; Chris Inglehearn; Carmel Toomes; Michel Michaelides; Omar Abdul Rahman Mahroo; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4533.

ARVO Annual Meeting Abstract June 2023

Genotypic and phenotypic findings in GUCA1A -associated retinopathy

Gilad Allon; Gavin Arno; Anthony G Robson; Magella M Neveu; Michel Michaelides; Andrew R Webster; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4526.

ARVO Annual Meeting Abstract June 2023

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

Imran H Yusuf; Richard Caswell; Parveen Sen; Maria Vadala; Patrik Schatz; Said El Shamieh; Srilekha Sundaramurthy; Sinje Geuer; Isabelle Meunier; Christina Zeitz; Isabelle S Audo; Inmaculada Martin-Merida; Carmen Ayuso; Ajoy Vincent; Andrew R Webster; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5441.

ARVO Annual Meeting Abstract June 2023

RP2- associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

Michalis Georgiou; Anthony G Robson; Sami H Uwaydat; NIKOLAS PONTIKOS; Omar Abdul Rahman Mahroo; Michael E Cheetham; Andrew R Webster; Alison J Hardcastle; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4638.

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Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder

Discrepancies Between Autofluorescence Imaging Modalities in CNGB3 -Associated Achromatopsia and Correlation With Ellipsoid Zone Continuity

Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A -Associated Usher Syndrome

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

The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism

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

Biallelic mutations in COQ8B ( ADCK4 ) lead to non-syndromic retinitis pigmentosa in multiple families

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

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

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

IMPG2 -related maculopathy

ABCA4 variant phasing and complete haplo-genotype analysis for singletons using Cas9 targeted ultra-long read nanopore sequencing

Genotypic and phenotypic findings in GUCA1A -associated retinopathy

SLC24A1 mutations are a cause of autosomal recessive retinitis pigmentosa

RP2- associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

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