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Genetics June 2025

Expansion of the ABCA4 -Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

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Daan M. Panneman; Rebekkah J. Hitti-Malin; Martin McKibbin; Suzanne E. de Bruijn; Erica G. M. Boonen; Andrea L. Vincent; Glenda Vargas; Jordi Corominas; Galuh Astuti; Christian Gilissen; Elfride De Baere; Chris F. Inglehearn; Susanne Roosing; Robert K. Koenekoop; Frans P. M. Cremers
TAGS: abca4 gene, retinal diseases, retinal dystrophies, genes, proband, whole genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):19. https://doi.org/10.1167/iovs.66.6.19

Includes: Supplemental Content

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

Using long-read Nanopore sequencing to study the genetic basis of Fuchs Endothelial Corneal Dystrophy

Bushra Alayed; Christopher M Watson; Seema Anand; Salina Siddiqui; Chris F. Inglehearn; Manir Ali

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5785.

ARVO Annual Meeting Abstract June 2023

Identification of CTNND1 mutations in Familial Exudative Vitreoretinopathy

Dong Sun; Robert Henderson; Emma Clement; Genomics England Research Consortium; Chris Inglehearn; James A. Poulter; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4536.

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

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

Using Oxford Nanopore long-range sequencing to phase ABCA4

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

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1541.

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.

ARVO Annual Meeting Abstract June 2021

Myocilin mutations account for 5% of POAG in a West Yorkshire clinic

Danah Albuainain; Salina Siddiqui; Charlotte Onsiong; Mohammed El-Asrag; Peter Galloway; Chris Inglehearn; Manir Ali

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1502.

ARVO Annual Meeting Abstract July 2019

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

Alison J Hardcastle; Pirro G Hysi; Karla Rojas-Lopez; Petra Liskova; Alice E Davidson; Manir Ali; Kathryn P Burdon; David O'Brart; Chris Inglehearn; Paul N Baird; Christopher J Hammond; Stephen J Tuft

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4249.

ARVO Annual Meeting Abstract June 2017

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Muhammad Khan; Perez-Carro Raquel; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Susanne Kohl; Christian P Hamel; Tamar Ben-Yosef; Berta De la Cerda; Daniel F Schorderet; Sandro Banfi; Carmen Ayuso; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2758.

ARVO Annual Meeting Abstract June 2017

Mutations in SLC38A8 and FOXD1 in patients with nystagmus and foveal hypoplasia.

Emma Catherine Lord; James A. Poulter; Andrew R Webster; Panagiotis Sergouniotis; Kamron N Khan; Paul J Benke; Lee Friedman; Manir Ali; Chris F Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2786.

ARVO Annual Meeting Abstract June 2017

Defects in the cell signaling mediator β-catenin ( CTNNB1 ) cause the retinal vascular condition FEVR

Carmel Toomes; Evangelia S Panagiotou; James A. Poulter; Carla Sanjurjo Soriano; Hiroyuki Kondo; Atsushi Hiyoshi; Hon-Yin Brian Chung; Mark E Tafoya; Manir Ali; Chris F Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2788.

Retina June 2017

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

PDF

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

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

M Imran Khan; Gilissen Christian; Ayuso Carmen; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Alexander Hoischen; Frans P Cremers

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

Retina December 2015

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

PDF

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

Genetic investigation of patients with FEVR and microcephaly

Evangelia Panagiotou; James Poulter; Vernon Long; Manir Ali; Chris Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5985.

ARVO Annual Meeting Abstract June 2015

Mutation screening in familial exudative vitreoretinopathy patients.

Carla Sanjurjo Soriano; Evangelia Panagiotou; James Poulter; Denisa Dzulova; Kamron Khan; Jacquelyn Bond; Manir Ali; Chris Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1257.

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.

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Expansion of the ABCA4 -Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies

Using long-read Nanopore sequencing to study the genetic basis of Fuchs Endothelial Corneal Dystrophy

Identification of CTNND1 mutations in Familial Exudative Vitreoretinopathy

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

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

Using Oxford Nanopore long-range sequencing to phase ABCA4

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

Myocilin mutations account for 5% of POAG in a West Yorkshire clinic

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Mutations in SLC38A8 and FOXD1 in patients with nystagmus and foveal hypoplasia.

Defects in the cell signaling mediator β-catenin ( CTNNB1 ) cause the retinal vascular condition FEVR

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

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

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

Genetic investigation of patients with FEVR and microcephaly

Mutation screening in familial exudative vitreoretinopathy patients.

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

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