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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

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

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

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

Nanopore-based transcript amplicon sequencing for functional investigation of non-coding variants from patient blood

Gavin Arno

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3897.

ARVO Annual Meeting Abstract June 2024

Long-read RNA sequencing identifies a pathogenic retrotransposon insertion in NMNAT1 in Italian probands

Dalila Capasso; Roberta Zeuli; Marianthi Karali; Raoul Timmermans; Michael Kwint; Enza Maria Valente; Sabrina Signorini; Gavin Arno; Frans Cremers; Sandro Banfi; Susanne Roosing; Daan Panneman; Suzanne E. de Bruijn

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4937.

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

Investigating Genome Editing As A Therapeutic For Late-Onset Retinal Degeneration

Ana Alonso-Carriazo Fernandez; Zaynab Butt; Gavin Arno; Mariya Moosajee; Kapil Bharti; Amanda-Jayne Francis Carr

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4270.

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

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

Genetics January 2024

Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4

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Yu Fujinami-Yokokawa; Kwangsic Joo; Xiao Liu; Kazushige Tsunoda; Mineo Kondo; Seong Joon Ahn; Anthony G. Robson; Izumi Naka; Jun Ohashi; Hui Li; Lizhu Yang; Gavin Arno; Nikolas Pontikos; Kyu Hyung Park; Michel Michaelides; Hisateru Tachimori; Hiroaki Miyata; Ruifang Sui; Se Joon Woo; Kaoru Fujinami; for the East Asia Inherited Retinal Disease Society Study Group*
TAGS: east asian people, genotype, macular dystrophy, spectral domain-optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2024; 65(1):41. https://doi.org/10.1167/iovs.65.1.41

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

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

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

MALENA DAICH VARELA; Gavin Arno; José D Luna; Michel Michaelides; Patricio G. Schlottmann

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4517.

ARVO Annual Meeting Abstract June 2023

Evaluating the clinical validity of the gene:disease relationship in inherited retinal disorders

Laryssa Huryn; William Hankey; Jennifer Goldstein; Panagiotis Sergouniotis; Kristy Lee; Gavin Arno; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4502.

ARVO Annual Meeting Abstract June 2023

Residual Neuropathy Target Esterase activity predicts retinopathy among PNPLA6 disorders

James Liu; Yi He; Chisom Madu; Lijin Dong; Marina Han; Cara Lwin; Gavin Arno; Anthony Moore; Andrew R Webster; Michel Michaelides; Laryssa Huryn; Bin Guan; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):578.

ARVO Annual Meeting Abstract June 2023

Use of iPSC-derived retinal ganglion cells to investigate cell specific OPA1 RNA processing

Joshua Harvey; Neringa Jurkute; Gavin Arno; Patrick Yu-Wai-Man; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1896.

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

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

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

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

Nanopore-based transcript amplicon sequencing for functional investigation of non-coding variants from patient blood

Long-read RNA sequencing identifies a pathogenic retrotransposon insertion in NMNAT1 in Italian probands

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

Investigating Genome Editing As A Therapeutic For Late-Onset Retinal Degeneration

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

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

Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4

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

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

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

Evaluating the clinical validity of the gene:disease relationship in inherited retinal disorders

Residual Neuropathy Target Esterase activity predicts retinopathy among PNPLA6 disorders

Use of iPSC-derived retinal ganglion cells to investigate cell specific OPA1 RNA processing

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