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Articles May 2021

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

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Katie M. Litts; Erica N. Woertz; Niamh Wynne; Brian P. Brooks; Alicia Chacon; Thomas B. Connor, Jr.; Deborah Costakos; Alina Dumitrescu; Arlene V. Drack; Gerald A. Fishman; William W. Hauswirth; Christine N. Kay; Byron L. Lam; Michel Michaelides; Mark E. Pennesi; Kimberly E. Stepien; Sasha Strul; C. Gail Summers; Joseph Carroll
TAGS: achromatopsia, albinism, retinal cone, diagnostic imaging, mosaicism
Trans. Vis. Sci. Tech.. 2021; 10(6):22. doi: https://doi.org/10.1167/tvst.10.6.22

Includes: Supplemental Content

Articles January 2021

Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia

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Katie M. Litts; Erica N. Woertz; Michalis Georgiou; Emily J. Patterson; Byron L. Lam; Gerald A. Fishman; Mark E. Pennesi; Christine N. Kay; William W. Hauswirth; Michel Michaelides; Joseph Carroll
TAGS: achromatopsia, artifacts, diagnostic imaging, ophthalmoscopy, optical coherence tomography, optics
Trans. Vis. Sci. Tech.. 2021; 10(1):11. doi: https://doi.org/10.1167/tvst.10.1.11

Includes: Supplemental Content

Articles November 2020

Intraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements in CNGA3- and CNGB3 -Associated Achromatopsia

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Michalis Georgiou; Katie M. Litts; Navjit Singh; Thomas Kane; Emily J. Patterson; Nashila Hirji; Angelos Kalitzeos; Alfredo Dubra; Michel Michaelides; Joseph Carroll

Trans. Vis. Sci. Tech.. 2020; 9(7):37. doi: https://doi.org/10.1167/tvst.9.7.37

Includes: Supplemental Content

Articles October 2020

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

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David G. Birch; Peiyao Cheng; Jacque L. Duncan; Allison R. Ayala; Maureen G. Maguire; Isabelle Audo; Janet K. Cheetham; Todd A. Durham; Abigail T. Fahim; Frederick L. Ferris, III; Elise Heon; Rachel M. Huckfeldt; Alessandro Iannaccone; Naheed W. Khan; Eleonora M. Lad; Michel Michaelides; Mark E. Pennesi; Katarina Stingl; Ajoy Vincent; Christina Y. Weng; for the Foundation Fighting Blindness Consortium Investigator Group
TAGS: electroretinography, visual acuity
Trans. Vis. Sci. Tech.. 2020; 9(11):9. doi: https://doi.org/10.1167/tvst.9.11.9

Includes: Supplemental Content

Retina September 2020

Long-Term Investigation of Retinal Function in Patients with Achromatopsia

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Michalis Georgiou; Navjit Singh; Thomas Kane; Serena Zaman; Nashila Hirji; Jonathan Aboshiha; Neruban Kumaran; Angelos Kalitzeos; Joseph Carroll; Richard G. Weleber; Michel Michaelides
TAGS: achromatopsia, eye, follow-up, cohort studies, genotype
Invest. Ophthalmol. Vis. Sci.. 2020; 61(11):38. doi: https://doi.org/10.1167/iovs.61.11.38

Includes: Supplemental Content

Articles September 2020

Validation of a Vision-Guided Mobility Assessment for RPE65 -Associated Retinal Dystrophy

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Neruban Kumaran; Robin R. Ali; Nick A. Tyler; James W. B. Bainbridge; Michel Michaelides; Gary S. Rubin
TAGS: mobility, retinal dystrophies, rpe65 protein, vision, walking speed
Trans. Vis. Sci. Tech.. 2020; 9(10):5. doi: https://doi.org/10.1167/tvst.9.10.5

Includes: Supplemental Content

Retina August 2020

Preservation of the Foveal Avascular Zone in Achromatopsia Despite the Absence of a Fully Formed Pit

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Rachel E. Linderman; Michalis Georgiou; Erica N. Woertz; Jenna A. Cava; Katie M. Litts; Sergey Tarima; Ranjan Rajendram; Jan M. Provis; Michel Michaelides; Joseph Carroll
TAGS: achromatopsia, diagnostic imaging, fovea centralis
Invest. Ophthalmol. Vis. Sci.. 2020; 61(10):52. doi: https://doi.org/10.1167/iovs.61.10.52

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

The clinical and genetic characteristics of patients with biallelic RLBP1 -mediated retinopathy

Emma Sara Duignan; Anthony G Robson; Elena Schiff; Genevieve Wright; Hannah Knight; Michel Michaelides; Andrew R Webster

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1952. doi:

ARVO Annual Meeting Abstract June 2020

Ethnicity of pathogenic variants in the ABCA4 gene: analysis of allele frequency in the general population

Yu Fujinami-Yokokawa; Izumi Naka; Nikolas Pontikos; Gavin Arno; Lizhu Yang; XIAO LIU; Shiying Li; Se Joon Woo; Rene Moya; Kazushige Tsunoda; Hiroaki Miyata; Jun Ohashi; Rupert W. Strauss; Hendrik P Scholl; Michel Michaelides; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2390. doi:

ARVO Annual Meeting Abstract June 2020

Baseline visual fields in the RUSH2A study: Associated factors and correlation with measures of disease severity

Jacque L Duncan; Wendi Liang; Isabelle S Audo; David G Birch; Joseph Carroll; Janet K. Cheetham; Laura R Erker; Frederick L Ferris; Elise Heon; Robert Hufnagel; Alessandro Iannaccone; Glenn J Jaffe; Christine N Kay; Maureen Maguire; Michel Michaelides; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3364. doi:

ARVO Annual Meeting Abstract June 2020

Exploring rod system dysfunction in patients with CRX -associated retinopathy

Rola Ba-Abbad; Shaun Leo; Xiaofan Jiang; Isabelle Chow; Mathura Indusegaran; Christopher Hammond; Michel Michaelides; Andrew R. Webster; Anthony G Robson; Omar Abdul Rahman Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3989. doi:

ARVO Annual Meeting Abstract June 2020

Comparison of white light and scanning laser ophthalmoscopy ultra-widefield pseudocolor reflectance images in foveal hypoplasia

Simona Degli Esposti; Mohamed Rashad; Matt Robertson; Vivi Riga; Navjit Singh; Mariya Moosajee; Michel Michaelides; Andrew R. Webster; Omar A Mahroo

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5304. doi:

ARVO Annual Meeting Abstract June 2020

Longitudinal assessment of foveal cone structure in blue cone monochromacy

Emily J Patterson; Angelos Kalitzeos; Navjit Singh; Thomas Michael Kane; Melissa Kasilian; Brian P Higgins; Jessica C Gardner; Jay Neitz; Alison J Hardcastle; Joseph Carroll; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5270. doi:

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. doi: https://doi.org/10.1167/tvst.9.6.26

Includes: Supplemental Content

Genetics April 2020

Retinal Structure in RPE65 -Associated Retinal Dystrophy

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Neruban Kumaran; Michalis Georgiou; James W. B. Bainbridge; Mette Bertelsen; Michael Larsen; Fiona Blanco-Kelly; Carmen Ayuso; Hoai Viet Tran; Francis L. Munier; Angelos Kalitzeos; Michel Michaelides
TAGS: retina, retinal dystrophies, rpe65 protein, spectral domain-optical coherence tomography, eye, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2020; 61(4):47. doi: https://doi.org/10.1167/iovs.61.4.47

Includes: Supplemental Content

Articles March 2020

Longitudinal Assessment of Remnant Foveal Cone Structure in a Case Series of Early Macular Telangiectasia Type 2

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Katie M. Litts; Mali Okada; Tjebo F. C. Heeren; Angelos Kalitzeos; Vincent Rocco; Rebecca R. Mastey; Navjit Singh; Thomas Kane; Melissa Kasilian; Marcus Fruttiger; Michel Michaelides; Joseph Carroll; Catherine Egan
TAGS: diagnostic imaging, eye, retinal cone, spectral domain-optical coherence tomography, telangiectasis, recovery of function
Trans. Vis. Sci. Tech.. 2020; 9(4):27. doi: https://doi.org/10.1167/tvst.9.4.27

Includes: Supplemental Content

Retina March 2020

Photoreceptor Structure in GNAT2 -Associated Achromatopsia

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Michalis Georgiou; Navjit Singh; Thomas Kane; Anthony G. Robson; Angelos Kalitzeos; Nashila Hirji; Andrew R. Webster; Alfredo Dubra; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, mosaicism, phenotype determination, photoreceptors, retinal cone, eye, color vision, spectral domain-optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2020; 61(3):40. doi: https://doi.org/10.1167/iovs.61.3.40

Includes: Supplemental Content

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

Trans. Vis. Sci. Tech.. 2019; 8(5):21. doi: https://doi.org/10.1167/tvst.8.5.21

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:

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Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure

Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia

Intraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements in CNGA3- and CNGB3 -Associated Achromatopsia

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

Long-Term Investigation of Retinal Function in Patients with Achromatopsia

Validation of a Vision-Guided Mobility Assessment for RPE65 -Associated Retinal Dystrophy

Preservation of the Foveal Avascular Zone in Achromatopsia Despite the Absence of a Fully Formed Pit

The clinical and genetic characteristics of patients with biallelic RLBP1 -mediated retinopathy

Ethnicity of pathogenic variants in the ABCA4 gene: analysis of allele frequency in the general population

Baseline visual fields in the RUSH2A study: Associated factors and correlation with measures of disease severity

Exploring rod system dysfunction in patients with CRX -associated retinopathy

Comparison of white light and scanning laser ophthalmoscopy ultra-widefield pseudocolor reflectance images in foveal hypoplasia

Longitudinal assessment of foveal cone structure in blue cone monochromacy

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

Retinal Structure in RPE65 -Associated Retinal Dystrophy

Longitudinal Assessment of Remnant Foveal Cone Structure in a Case Series of Early Macular Telangiectasia Type 2

Photoreceptor Structure in GNAT2 -Associated Achromatopsia

Deep Phenotyping of PDE6C -Associated Achromatopsia

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

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

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