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Journal Articles (6)
Meeting Abstract (6)

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Investigative Ophthalmology & Visual Science (12)

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ARVO Annual Meeting Abstract (6)
Retina (3)
Genetics (2)
Visual Psychophysics and Physiological Optics (1)

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Eye Anatomy and Disorders (5)
Genetics (5)
Retina (5)
Low Vision (1)
Vitreous Disorders (1)

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mutation (3)
autosomal recessive inheritance (2)
family (2)
genes (2)
retinal dystrophies (2)
body tissue (1)
child (1)
datasets (1)
dideoxy chain termination dna sequencing (1)
dna (1)

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ARVO Annual Meeting Abstract June 2022

A gene-centric nomenclature and classification system for inherited retinal disorders

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

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):621 – A0336. doi:

Retina June 2021

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

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David J. Green; Eva Lenassi; Cerys S. Manning; David McGaughey; Vinod Sharma; Graeme C. Black; Jamie M. Ellingford; Panagiotis I. Sergouniotis
TAGS: body tissue, datasets, macular dystrophy, phenotype, retina, gene expression, genetic screening, genes, enhancer elements, genetic
Invest. Ophthalmol. Vis. Sci.. 2021; 62(7):16. doi: https://doi.org/10.1167/iovs.62.7.16

Includes: Supplemental Content

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. doi: https://doi.org/10.1167/iovs.15-17604

Includes: Supplemental Content

Visual Psychophysics and Physiological Optics February 2014

Vision in Observers With Enhanced S-Cone Syndrome: An Excess of S-Cones but Connected Mainly to Conventional S-Cone Pathways

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Caterina Ripamonti; Jonathan Aboshiha; G. Bruce Henning; Panagiotis I. Sergouniotis; Michel Michaelides; Anthony T. Moore; Andrew R. Webster; Andrew Stockman
TAGS: retinal cone
Invest. Ophthalmol. Vis. Sci.. 2014; 55(2):963-976. doi: https://doi.org/10.1167/iovs.13-12897

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. doi: https://doi.org/10.1167/iovs.11-8629

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

The Clinical Effect of Homozygous ABCA4 Alleles in 14 Patients

Kaoru Fujinami; Panagiotis I. Sergouniotis; Donna S. Mackay; Alice E. Davidson; Anthony T. Moore; Anthony G. Robson; Graham E. Holder; Michel Michaelides; Andrew R. Webster

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4567. doi:

ARVO Annual Meeting Abstract March 2012

Recessive Mutations in the PLA2G5 Gene, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina

Panagiotis I. Sergouniotis; Alice E. Davidson; Donna S. Mackay; Anthony G. Robson; Timothy W. Isaacs; Graham E. Holder; Glen Jeffery; Vincent Plagnol; Anthony T. Moore; Andrew R. Webster

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2253. doi:

ARVO Annual Meeting Abstract March 2012

Linkage Analysis, Homozygosity Mapping, And Exome Sequencing Of A Cohort Of Families With Autosomal Recessive Retinal Disease

Alice E. Davidson; Panagiotis I. Sergouniotis; Donna S. Mackay; Zheng Li; Anthony T. Moore; Vincent Plagnol; Andrew R. Webster

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4522. doi:

Genetics May 2011

Screening of SPATA7 in Patients with Leber Congenital Amaurosis and Severe Childhood-Onset Retinal Dystrophy Reveals Disease-Causing Mutations

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Donna S. Mackay; Louise A. Ocaka; Arundhati Dev Borman; Panagiotis I. Sergouniotis; Robert H. Henderson; Phillip Moradi; Anthony G. Robson; Dorothy A. Thompson; Andrew R. Webster; Anthony T. Moore
TAGS: child, leber's amaurosis, mutation, retinal dystrophies, screening, family, exons
Invest. Ophthalmol. Vis. Sci.. 2011; 52(6):3032-3038. doi: https://doi.org/10.1167/iovs.10-7025

ARVO Annual Meeting Abstract April 2011

Mutational Load In TSPAN12 Influences The Severity Of FEVR

James A. Poulter; Alice E. Davidson; Manir Ali; Helen A. Mintz-Hittner; Louise M. Downey; Panagiotis I. Sergouniotis; Anthony T. Moore; Andrew R. Webster; Chris F. Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5370. doi:

ARVO Annual Meeting Abstract April 2011

Clinical Characteristics And Molecular Pathology Of Nine Patients With Autosomal Recessive Complete Congenital Stationary Night Blindness Due To GRM6 Mutation

Panagiotis I. Sergouniotis; Anthony G. Robson; Graham E. Holder; Anthony T. Moore; Andrew R. Webster

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5384. doi:

Retina March 2011

A Survey of DNA Variation of C2ORF71 in Probands with Progressive Autosomal Recessive Retinal Degeneration and Controls

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Panagiotis I. Sergouniotis; Zheng Li; Donna S. Mackay; Genevieve A. Wright; Arundhati Dev Borman; Sophie R. Devery; Anthony T. Moore; Andrew R. Webster
TAGS: autosomal recessive inheritance, dna, high-resolution melt curve analysis, polymerase chain reaction, proband, retinal degeneration, surveys, dideoxy chain termination dna sequencing
Invest. Ophthalmol. Vis. Sci.. 2011; 52(3):1880-1886. doi: https://doi.org/10.1167/iovs.10-6043

Includes: Supplemental Content

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