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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 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

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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

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

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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 April 2014

Determining the genetic basis of familial Keratoconus by autozygosity mapping and whole exome sequencing

Layal Abi Farraj; Salina Siddiqui; Aine Rice; Gretta Abi-Sleymane; Carmel Toomes; Chris F Inglehearn; Manir Ali

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6410.

Genetics August 2013

Mutational Analysis of MIR184 in Sporadic Keratoconus and Myopia

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Judith Lechner; Ha Ae Bae; Jasenka Guduric-Fuchs; Aine Rice; Gowthaman Govindarajan; Salina Siddiqui; Layal Abi Farraj; Shea Ping Yip; Maurice Yap; Manoranjan Das; Emmanuelle Souzeau; Doug Coster; Richard A. Mills; Richard Lindsay; Tony Phillips; Paul Mitchell; Manir Ali; Chris F. Inglehearn; Periasamy Sundaresan; Jamie E. Craig; David A. Simpson; Kathryn P. Burdon; Colin E. Willoughby
TAGS: keratoconus, mutation, mutation analysis, myopia
Invest. Ophthalmol. Vis. Sci.. 2013; 54(8):5266-5272. https://doi.org/10.1167/iovs.13-12035

Genetics May 2012

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

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James A. Poulter; Alice E. Davidson; Manir Ali; David F. Gilmour; David A. Parry; Helen A. Mintz-Hittner; Ian M. Carr; Helen M. Bottomley; Vernon W. Long; Louise M. Downey; Panagiotis I. Sergouniotis; Genevieve A. Wright; Robert E. MacLaren; Anthony T. Moore; Andrew R. Webster; Chris F. Inglehearn; Carmel Toomes
TAGS: familial exudative vitreoretinopathies, mutation, retinal dysplasia, family
Invest. Ophthalmol. Vis. Sci.. 2012; 53(6):2873-2879. https://doi.org/10.1167/iovs.11-8629

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Mapping Collagen Orientation Changes In The Corneas Of Blindness Enlarged Globe (beg) Chicken Mutants

Sian R. Morgan; Craig Boote; Erin P. Dooley; Paul M. Hocking; Chris F. Inglehearn; Manir Ali; Thomas Sorensen; Keith M. Meek

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1098.

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

Direct Sequencing of miR-184 and miR-205 in Sporadic Keratoconus

Judith Lechner; Durga Dash; Kathryn P. Burdon; Jamie E. Craig; Aine Rice; Chris F. Inglehearn; David A. Simpson; Colin E. Willoughby

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4219.

ARVO Annual Meeting Abstract March 2012

Genetic Analysis Of A Family With Familial Exudative Vitreoretinopathy And Incontinentia Pigmenti

James A. Poulter; Louise M. Downey; Donna Billingham; Ruth S. Charlton; Manir Ali; Chris F. Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4561.

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.

Retina January 2012

Profiling Retinal Biochemistry in the MPDZ Mutant Retinal Dysplasia and Degeneration Chick: A Model of Human RP and LCA

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James R. Beattie; Sorcha Finnegan; Ross W. Hamilton; Manir Ali; Christopher F. Inglehearn; Alan W. Stitt; John J. McGarvey; Paul M. Hocking; William J. Curry
TAGS: biochemistry, retina, retinal dysplasia, sinus histiocytosis, tissue degeneration, proteins, glial fibrillary acidic protein, retinal degeneration, immunohistochemistry, in situ nick-end labeling
Invest. Ophthalmol. Vis. Sci.. 2012; 53(1):413-420. https://doi.org/10.1167/iovs.11-8591

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

Genetics June 2011

Genetic Heterogeneity for Recessively Inherited Congenital Cataract Microcornea with Corneal Opacity

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Kamron Khan; Ahmed Al-Maskari; Martin McKibbin; Ian M. Carr; Adam Booth; Moin Mohamed; Salina Siddiqui; James A. Poulter; David A. Parry; Clara V. Logan; Anwar Hashmi; Tehseen Sahi; Hussain Jafri; Yasmin Raashid; Colin A. Johnson; Alex F. Markham; Carmel Toomes; Aine Rice; Eamonn Sheridan; Chris F. Inglehearn; Manir Ali
TAGS: congenital cataract, corneal opacity, genetic heterogeneity, microcornea, family
Invest. Ophthalmol. Vis. Sci.. 2011; 52(7):4294-4299. https://doi.org/10.1167/iovs.10-6776

Includes: Supplemental Content

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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

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

Determining the genetic basis of familial Keratoconus by autozygosity mapping and whole exome sequencing

Mutational Analysis of MIR184 in Sporadic Keratoconus and Myopia

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

Mapping Collagen Orientation Changes In The Corneas Of Blindness Enlarged Globe (beg) Chicken Mutants

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

Direct Sequencing of miR-184 and miR-205 in Sporadic Keratoconus

Genetic Analysis Of A Family With Familial Exudative Vitreoretinopathy And Incontinentia Pigmenti

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

Profiling Retinal Biochemistry in the MPDZ Mutant Retinal Dysplasia and Degeneration Chick: A Model of Human RP and LCA

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

Genetic Heterogeneity for Recessively Inherited Congenital Cataract Microcornea with Corneal Opacity

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