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Genetics December 2019

Deep Phenotyping of PDE6C -Associated Achromatopsia

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Michalis Georgiou; Anthony G. Robson; Navjit Singh; Nikolas Pontikos; Thomas Kane; Nashila Hirji; Caterina Ripamonti; Tryfon Rotsos; Alfredo Dubra; Angelos Kalitzeos; Andrew R. Webster; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, electroretinography, eye, fundus autofluorescence imaging, mosaicism, phenotype determination, retinal cone, spectral-domain optical coherence tomography, pathologic nystagmus
Invest. Ophthalmol. Vis. Sci.. 2019; 60(15):5112-5123. doi: https://doi.org/10.1167/iovs.19-27761

Includes: Supplemental Content

Articles October 2019

Assessing the Interocular Symmetry of Foveal Outer Nuclear Layer Thickness in Achromatopsia

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Rebecca R. Mastey; Mina Gaffney; Katie M. Litts; Christopher S. Langlo; Emily J. Patterson; Margaret R. Strampe; Angelos Kalitzeos; Michel Michaelides; Joseph Carroll
TAGS: achromatopsia, eye
Trans. Vis. Sci. Tech.. 2019; 8(5):21. doi: https://doi.org/10.1167/tvst.8.5.21

ARVO Annual Meeting Abstract July 2019

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Yuri V Sergeev; Kaoru Fujinami; Benedetto Falsini; Wadih M Zein; Kerry Goetz; Yu Yokokawa Fujinami; Se Joon Woo; Shiying Li; Matteo Bertelli; Winston Lee; Jana Zernant; Rando Allikmets; Andrew Webster; Michel Michaelides; Brian Patrick Brooks; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3872. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Age-related changes in ERG and genotype-phenotype comparison in patients with achromatopsia.

Anthony G Robson; Shaheeni Khoda; Selma Lewis; Magella Neveu; Antonio Calcagni; Andrew Webster; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4514. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Longitudinal study of in-vivo Cone Photoreceptor Structural – Functional Changes in Ischemic Diabetic Maculopathy

Nick Muthiah; Kunal K Dansingani; Travis Smith; Michel Michaelides; Pete Coffey; Lyndon Da Cruz

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4599. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Differences in axial eye length and retinal structure between patients with achromatopsia and blue cone monochromacy

Emily J Patterson; Rebecca Mastey; Sarah Connolly; Michalis Georgiou; Angelos Kalitzeos; Nashila Hirji; Katie M Litts; Christopher S Langlo; Jessica S Rowlan; Jay Neitz; Michel Michaelides; Maureen Neitz; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1313. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Pathogenic structural and non-coding variants in retinal dystrophy identified through the 100,000 genomes project

Gavin Arno; Jamie Ellingford; Fabiana Louise Motta; Kathryn Oprych; Rola Ba-Abbad; Omar Abdul Rahman Mahroo; Anthony Moore; Graeme Black; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1755. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Relationship between adaptive optics scanning light ophthalmoscopy success and structural differences on optical coherence tomography in achromatopsia

Katie M Litts; Michalis Georgiou; Rebecca Mastey; Emily J Patterson; Michel Michaelides; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2195. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Awareness of olfactory impairment in a cohort of patients with CNGB1 -associated retinitis pigmentosa

Farid Afshar; Gavin Arno; Rola Ba-Abbad; Simona Degli Esposti; Michel Michaelides; Andrew Webster; Omar Mahroo

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5423. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

Omar Abdul Rahman Mahroo; NIKOLAS PONTIKOS; Gavin Arno; Rola Ba-Abbad; Samantha Malka; Genevieve Wright; Monica Armengol; Menachem Katz; Anthony Moore; Michel Michaelides; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):401. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Cone photoreceptor structure in RPGR -associated retinopathy

Navjit Singh; Thomas Kane; Yesa Yang; James Tee; Melissa Kasilian; Angelos Kalitzeos; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4602. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Quantifying nystagmus in patients with Achromatopsia using image-based tracking with AOSLO

Thomas Kane; Navjit Singh; Michalis Georgiou; Alfredo Dubra; Michel Michaelides; Angelos Kalitzeos

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4605. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Leber Congenital Amaurosis associated with GUCY2D variants: A Retrospective Natural History Study in preparation for future Therapies.

ZAINA Ibrahim BOUZIA; Michalis Georgiou; Sarah Hull; Anthony G Robson; Andrew Webster; Alison J Hardcastle; Alessia Fiorentino; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5421. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Clinical and molecular characterization of autosomal recessive and X-linked incomplete congenital stationary night blindness

Rola Ba-Abbad; Gavin Arno; Omar Abdul Rahman Mahroo; Michel Michaelides; Andrew Webster; Anthony G Robson

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5950. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Rapid non-mydriatic assessment of panretinal cone system function using a hand-held electroretinography device in ABCA4 retinopathy

diana-maria butu; Ana Fakin; Talha Soorma; April Q Neville; Christopher J Hammond; Michel Michaelides; Andrew Webster; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5952. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Natural history of foveal cone structure in RPE65 -associated Leber congenital amaurosis (LCA)

Angelos Kalitzeos; Neruban Kumaran; Michalis Georgiou; Navjit Singh; Thomas Kane; Melissa Kasilian; Alfredo Dubra; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4584. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Deep Phenotyping of PDE6C -Associated Retinopathy

Michalis Georgiou; Anthony G Robson; Nashila Hirji; Navjit Singh; Thomas Kane; Alfredo Dubra; Joseph Carroll; Andrew Webster; Angelos Kalitzeos; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5167. doi: https://doi.org/

Retina June 2019

Characterization of Retinal Structure in ATF6 -Associated Achromatopsia

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Rebecca R. Mastey; Michalis Georgiou; Christopher S. Langlo; Angelos Kalitzeos; Emily J. Patterson; Thomas Kane; Navjit Singh; Ajoy Vincent; Anthony T. Moore; Stephen H. Tsang; Jonathan H. Lin; Marielle P. Young; M. Elizabeth Hartnett; Elise Héon; Susanne Kohl; Michel Michaelides; Joseph Carroll
TAGS: achromatopsia, diagnostic imaging, mosaicism, retina, retinal cone, rod photoreceptors, parafoveal region, photoreceptors, genetics, fovea centralis
Invest. Ophthalmol. Vis. Sci.. 2019; 60(7):2631-2640. doi: https://doi.org/10.1167/iovs.19-27047

Articles March 2019

Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease

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Preena Tanna; Michalis Georgiou; Rupert W. Strauss; Naser Ali; Neruban Kumaran; Angelos Kalitzeos; Kaoru Fujinami; Michel Michaelides
TAGS: child, follow-up, eye, stargardt's disease, reliability, spectral-domain optical coherence tomography
Trans. Vis. Sci. Tech.. 2019; 8(2):1. doi: https://doi.org/10.1167/tvst.8.2.1

Genetics January 2019

Adaptive Optics Retinal Imaging in CNGA3 -Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability

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Michalis Georgiou; Katie M. Litts; Angelos Kalitzeos; Christopher S. Langlo; Thomas Kane; Navjit Singh; Melissa Kassilian; Nashila Hirji; Neruban Kumaran; Alfredo Dubra; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2019; 60(1):383-396. doi: https://doi.org/10.1167/iovs.18-25880

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Deep Phenotyping of PDE6C -Associated Achromatopsia

Assessing the Interocular Symmetry of Foveal Outer Nuclear Layer Thickness in Achromatopsia

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Age-related changes in ERG and genotype-phenotype comparison in patients with achromatopsia.

Longitudinal study of in-vivo Cone Photoreceptor Structural – Functional Changes in Ischemic Diabetic Maculopathy

Differences in axial eye length and retinal structure between patients with achromatopsia and blue cone monochromacy

Pathogenic structural and non-coding variants in retinal dystrophy identified through the 100,000 genomes project

Relationship between adaptive optics scanning light ophthalmoscopy success and structural differences on optical coherence tomography in achromatopsia

Awareness of olfactory impairment in a cohort of patients with CNGB1 -associated retinitis pigmentosa

Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

Cone photoreceptor structure in RPGR -associated retinopathy

Quantifying nystagmus in patients with Achromatopsia using image-based tracking with AOSLO

Leber Congenital Amaurosis associated with GUCY2D variants: A Retrospective Natural History Study in preparation for future Therapies.

Clinical and molecular characterization of autosomal recessive and X-linked incomplete congenital stationary night blindness

Rapid non-mydriatic assessment of panretinal cone system function using a hand-held electroretinography device in ABCA4 retinopathy

Natural history of foveal cone structure in RPE65 -associated Leber congenital amaurosis (LCA)

Deep Phenotyping of PDE6C -Associated Retinopathy

Characterization of Retinal Structure in ATF6 -Associated Achromatopsia

Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease

Adaptive Optics Retinal Imaging in CNGA3 -Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability

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