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Immunology and Microbiology February 2025

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

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Lude Moekotte; Joke H. de Boer; Sanne Hiddingh; Aafke de Ligt; Xuan-Thanh-An Nguyen; Carel B. Hoyng; Chris F. Inglehearn; Martin McKibbin; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Terri L. McLaren; Alaa AlTalbishi; Daan M. Panneman; Erica G. M. Boonen; Sandro Banfi; Béatrice Bocquet; Isabelle Meunier; Elfride De Baere; Robert Koenekoop; Monika Ołdak; Carlo Rivolta; Lisa Roberts; Raj Ramesar; Rasa Strupaitė-Šileikienė; Susanne Kohl; G. Jane Farrar; Marion van Vugt; Jessica van Setten; Susanne Roosing; L. Ingeborgh van den Born; Camiel J. F. Boon; Maria M. van Genderen; Jonas J. W. Kuiper
TAGS: complement system proteins, hereditary retinal dystrophy, plasma, proteins, genotype, proteome, genes
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):55. https://doi.org/10.1167/iovs.66.2.55

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Real world treatment intervals in eyes with nAMD treated with Aflibercept. Retrospective UK multicentre study.

Peter Henry Scanlon; Marta Gruszka-Goh; Sharam Kashani; Martin McKibbin; Andrew Lotery; Romi Chhabra; James Talks; Quresh Mohamed

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2117.

ARVO Annual Meeting Abstract June 2024

Real-world treatment patterns and outcomes in the first 6 and 12 months of faricimab use among eyes with neovascular age-related macular degeneration (nAMD) in the UK: FARWIDE-nAMD

Deepali Varma; James Talks; Gabriella de Salvo; Praveen J Patel; Samantha R De Silva; Richard Gale; Martin McKibbin; Gloria Chi; Natalee James; Alice Rothwell; Neil Shah; Amanda Downey; Melanie Dodds; Parul Dayal

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4905.

ARVO Annual Meeting Abstract June 2023

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Daan Panneman; Susanne Roosing; Erica G.M Boonen; Chris Inglehearn; Martin McKibbin; Elfride De Baere; Thomy de Ravel; Sascha Vermeer; Andrea L Vincent; Robert K Koenekoop; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4518.

ARVO Annual Meeting Abstract June 2022

Characterization of Deletions using Oxford Nanopore Long-Read Sequencing

Benjamin Mc Clinton; Laura A. Crinnion; Martin McKibbin; Rajarshi Mukherjee; Manir Ali; Chris Inglehearn; Christopher M. Watson; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1597 – A0386.

ARVO Annual Meeting Abstract June 2021

Clinical and genetic spectrum of patients with GUCY2D -associated retinal dystrophies

Leo Hahn; Mary J. van Schooneveld; Michalis Georgiou; Magda Meester-Smoor; Andrew J Lotery; Maria M. van Genderen; Jeannette Ossewaarde-van Norel; L. Ingeborgh van den Born; Carel Hoyng; Caroline C. W. Klaver; Susan M Downes; Martin McKibbin; Arthur A.B. Bergen; Bart Leroy; Michel Michaelides; Camiel Boon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1544.

ARVO Annual Meeting Abstract June 2021

A founder allele deleting CRX causes late-onset macular disease by haploinsufficiency

samar Yahya; Claire Smith; James Poulter; Martin McKibbin; Gavin Arno; Jamie Ellingford; Andrew Webster; Graeme Black; Manir Ali; Carmel Toomes; Chris Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1536.

Articles May 2020

Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration

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Kamron N. Khan; Shyamanga Borooah; Leonardo Lando; Kunny Dans; Omar A. Mahroo; Amit Meshi; Angelos Kalitzeos; Georgios Agorogiannis; Sasan Moghimi; William R. Freeman; Andrew R. Webster; Anthony T. Moore; Martin McKibbin; Michel Michaelides
TAGS: bruch's basal membrane, macular degeneration, optical coherence tomography, retinal pigment epithelium, spectral domain-optical coherence tomography, eye, drusen
Trans. Vis. Sci. Tech.. 2020; 9(6):26. https://doi.org/10.1167/tvst.9.6.26

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Progression from early/intermediate age-related macular degeneration to either geographic atrophy or choroidal neovascularisation in a large UK cohort

Usha Chakravarthy; Clare Bailey; Martin McKibbin; Sarah Rabhi; Anushini Muthutantri; Christopher Brittain; Jeffrey R Willis; Ronald A Cantrell

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2979.

Retina June 2017

Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

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Kamron N. Khan; Mohammed E. El-Asrag; Cristy A. Ku; Graham E. Holder; Martin McKibbin; Gavin Arno; James A. Poulter; Keren Carss; Tejaswi Bommireddy; Saghar Bagheri; Benjamin Bakall; Hendrik P. Scholl; F. Lucy Raymond; Carmel Toomes; Chris F. Inglehearn; Mark E. Pennesi; Anthony T. Moore; Michel Michaelides; Andrew R. Webster; Manir Ali; for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium
TAGS: alleles, mutation, photoreceptors, presynaptic terminals, proteins, retinal dystrophies, retinal diseases, retina, fluorescent antibody technique, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):2906-2914. https://doi.org/10.1167/iovs.16-20608

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Real-life outcomes of switching AntiVEGF treatment from ranibizumab to aflibercept for neovascular agerelated macular degeneration (nAMD): UK multicentre study.

Faruque Daudbhai Ghanchi; Nishal Patel; James S Talks; Andrew J Lotery; Sobha Sivaprasad; Clare Bailey; Rob Johnston; Martin McKibbin

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3334.

Retina December 2015

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

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Panagiotis I. Sergouniotis; Martin McKibbin; Anthony G. Robson; Hanno J. Bolz; Elfride De Baere; Philipp L. Müller; Raoul Heller; Mohammed E. El-Asrag; Kristof Van Schil; Vincent Plagnol; Carmel Toomes; UK Inherited Retinal Disease Consortium; Manir Ali; Graham E. Holder; Peter Charbel Issa; Bart P. Leroy; Chris F. Inglehearn; Andrew R. Webster
TAGS: autosomal recessive inheritance, genes, mutation, retinal diseases, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8083-8090. https://doi.org/10.1167/iovs.15-17604

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Mutations in MFSD8 can indeed cause a nonsyndromic recessive macular dystrophy.

Mohammed Elsayed Elasrag; Martin McKibbin; James Poulter; Chris Inglehearn; Carmel Toomes; Manir Ali

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2877.

ARVO Annual Meeting Abstract June 2015

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

Manir Ali; Mohammed Elsayed Elasrag; Panagiotis Sergouniotis; Martin McKibbin; Vincent Plagnol; Zakia Abdelhamed; Declan McKeefry; Chris Inglehearn; Andrew Webster; Carmel Toomes; UK Inherited Retinal Disease Consortium

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2888.

ARVO Annual Meeting Abstract April 2014

United Kingdom Neovascular AMD Database study: Time to reactivation after a pause in treatment - outcomes from 92,000 intravitreal ranibizumab injections

Pearse Andrew Keane; Martin McKibbin; Aaron Y Lee; Usha Chakravarthy; Robert Johnston; Catherine A Egan; Dawn A Sim; Javier Zarranz-Ventura; Adnan Tufail; AMD National EMR Study Group

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3066.

ARVO Annual Meeting Abstract June 2013

Genotype-Phenotype correlations in patients with Basal Laminar Drusen and Systemic Associations

Suman Pilli; Martin McKibbin; Clare Bailey; Sheila Pinto; Jesus Garcia-Fernandez; Helen Griffiths; Santiago Rodriguez de Cordoba; Andrew Lotery

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1333.

Letters to the Editor January 2013

Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene

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David S. M. Burton; Manir Ali; Martin McKibbin
TAGS: genes, homozygote, mutation, phenotype
Invest. Ophthalmol. Vis. Sci.. 2013; 54(1):520. https://doi.org/10.1167/iovs.12-11472

ARVO Annual Meeting Abstract March 2012

Improved Response To Ranibizumab In Ex And Current Smokers With Age-related Macular Degeneration (AMD), But No Evidence That CFH, ARMS2/HTRA1 Or VEGF Genotypes Predict Treatment Outcome

Chris F. Inglehearn; Manir Ali; Richard Gale; Frances Cassidy; Deepali Varma; Louise M. Downey; Paul D. Baxter; Martin McKibbin

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):3325.

ARVO Annual Meeting Abstract March 2012

In Vivo Spectral Domain Optical Coherence Tomography Retinal Imaging Of The Rdd Chicken Model Of Inherited Retinal Degeneration

Manir Ali; Paul Hocking; Mike Shires; Kenny Boyle; Chris F. Inglehearn; Martin McKibbin

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5007.

Genetics September 2011

Mpdz Null Allele in an Avian Model of Retinal Degeneration and Mutations in Human Leber Congenital Amaurosis and Retinitis Pigmentosa

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Manir Ali; Paul M. Hocking; Martin McKibbin; Sorcha Finnegan; Mike Shires; James A. Poulter; Katrina Prescott; Adam Booth; Yasmin Raashid; Hussain Jafri; Jonathan B. Ruddle; David A. Mackey; Samuel G. Jacobson; Carmel Toomes; Douglas H. Lester; David W. Burt; William J. Curry; Chris F. Inglehearn
TAGS: alleles, aves, leber's amaurosis, mutation, retinal degeneration, retinitis pigmentosa, sinus histiocytosis, chickens, dna, phenotype
Invest. Ophthalmol. Vis. Sci.. 2011; 52(10):7432-7440. https://doi.org/10.1167/iovs.11-7872

Includes: Supplemental Content

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Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

Real world treatment intervals in eyes with nAMD treated with Aflibercept. Retrospective UK multicentre study.

Real-world treatment patterns and outcomes in the first 6 and 12 months of faricimab use among eyes with neovascular age-related macular degeneration (nAMD) in the UK: FARWIDE-nAMD

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Characterization of Deletions using Oxford Nanopore Long-Read Sequencing

Clinical and genetic spectrum of patients with GUCY2D -associated retinal dystrophies

A founder allele deleting CRX causes late-onset macular disease by haploinsufficiency

Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration

Progression from early/intermediate age-related macular degeneration to either geographic atrophy or choroidal neovascularisation in a large UK cohort

Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Real-life outcomes of switching AntiVEGF treatment from ranibizumab to aflibercept for neovascular agerelated macular degeneration (nAMD): UK multicentre study.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

Mutations in MFSD8 can indeed cause a nonsyndromic recessive macular dystrophy.

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

United Kingdom Neovascular AMD Database study: Time to reactivation after a pause in treatment - outcomes from 92,000 intravitreal ranibizumab injections

Genotype-Phenotype correlations in patients with Basal Laminar Drusen and Systemic Associations

Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene

Improved Response To Ranibizumab In Ex And Current Smokers With Age-related Macular Degeneration (AMD), But No Evidence That CFH, ARMS2/HTRA1 Or VEGF Genotypes Predict Treatment Outcome

In Vivo Spectral Domain Optical Coherence Tomography Retinal Imaging Of The Rdd Chicken Model Of Inherited Retinal Degeneration

Mpdz Null Allele in an Avian Model of Retinal Degeneration and Mutations in Human Leber Congenital Amaurosis and Retinitis Pigmentosa

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