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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.

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.

ARVO Annual Meeting Abstract June 2023

Ratio of temporal to nasal macular ganglion cell layer thicknesses in a twin study: correlations with age and within monozygotic and dizygotic twin pairs

Khaldoon O. Al-Nosairy; Zakariya Jarrar; Ali Lamin; Katie Williams; Sobha Sivaprasad; Michael B Hoffmann; Pirro G Hysi; Christopher J Hammond; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3433.

ARVO Annual Meeting Abstract June 2023

Retinal Nerve Fibre Layer thickness is associated with specific aspects of cognition

Miryam Schattner; Omar Abdul Rahman Mahroo; Praveen J Patel; Christopher J Hammond; Pirro G Hysi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4197.

ARVO Annual Meeting Abstract June 2023

Certification of vision impairment relating to uveitis as main cause in England and Wales between 2009 and 2021

Amit Mishra; Antra Zekite; Wen Xing; Noriko Cable; Snezana Lazarevic; Roxanne Crosby-Nwaobi; Omar Abdul Rahman Mahroo; Declan Flanagan

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4840.

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

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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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

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

Ratio of temporal to nasal macular ganglion cell layer thicknesses in a twin study: correlations with age and within monozygotic and dizygotic twin pairs

Retinal Nerve Fibre Layer thickness is associated with specific aspects of cognition

Certification of vision impairment relating to uveitis as main cause in England and Wales between 2009 and 2021

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

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

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