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Genetics May 2019

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy

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Frederick T. Collison; Gerald A. Fishman; Takayuki Nagasaki; Jana Zernant; J. Jason McAnany; Jason C. Park; Rando Allikmets
TAGS: color, electroretinography, family, retinitis pigmentosa, diagnostic imaging, autosomal recessive inheritance, genetic analysis, progressive cone-rod dystrophy, autofluorescence, spectral-domain optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2019; 60(6):2347-2356. doi: 10.1167/iovs.19-26993

ARVO Annual Meeting Abstract July 2018

Interocular symmetry of foveal cone topography in achromatopsia (ACHM)

Katie M Litts; Christopher S Langlo; Emily J Patterson; Rebecca Mastey; Jenna A Cava; Patrick May; Byron L Lam; Gerald A Fishman; Mark E Pennesi; Christine N. Kay; Alfredo Dubra; William W Hauswirth; Kathleen N Beasley; Jeffrey D Chulay; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4992. doi:

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy: mutations found in 12 additional families

Kent W Small; Fadi Shaya; Svetlana Yelchits; Adam P DeLuca; Richard Alan Lewis; Monique J Leys; Nitin Udar; Benjamin Bakall; Klaus Rohrschneider; Bernard Puech; Virginie Puech; Elise Heon; James C Folk; Gerald A Fishman; Christine Garabetian; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2779. doi:

ARVO Annual Meeting Abstract June 2017

Visual acuity in Stargardt disease patients after age 40

Frederick T Collison; Gerald A Fishman

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4667. doi:

ARVO Annual Meeting Abstract June 2017

Frequent hypomorphic alleles solve 80% of late-onset ABCA4 disease and distinguish it from age-related macular degeneration

Rando Allikmets; Jana Zernant; Frederick T Collison; Gerald A Fishman; Yuri V Sergeev; Kaspar Schuerch; Janet R Sparrow; Stephen Tsang; Winston Lee

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1240. doi:

ARVO Annual Meeting Abstract June 2017

Full-field measures of visual function in X-linked retinoschisis: comparison of ERGs, luminance thresholds, and pupil responses

J Jason McAnany; Jason C Park; Frederick T Collison; Gerald A Fishman

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4279. doi:

Retina May 2017

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

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Samuel G. Jacobson; Artur V. Cideciyan; Alexander Sumaroka; Alejandro J. Roman; Jason Charng; Monica Lu; Windy Choi; Rebecca Sheplock; Malgorzata Swider; Mychajlo S. Kosyk; Sharon B. Schwartz; Edwin M. Stone; Gerald A. Fishman
TAGS: mutation, cohort studies, genes, introns, questionnaires, vision, diagnostic imaging, eye, leber's amaurosis, measures of outcome
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2609-2622. doi: 10.1167/iovs.17-21560

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Assessing Cone Structure in Achromatopsia With AOSLO and SDOCT

Christopher S Langlo; Laura R Erker; Maria A Parker; Emily J Patterson; Byron L Lam; Christine Nichols Kay; Mark E Pennesi; Richard G Weleber; Gerald A Fishman; William W Hauswirth; Joseph Carroll

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

ARVO Annual Meeting Abstract September 2016

Two-color pupillometry in enhanced S-cone syndrome

Frederick T Collison; Jason C Park; Gerald A. Fishman; J Jason McAnany

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):619. doi:

ARVO Annual Meeting Abstract September 2016

Assessing color vision in congenital achromatopsia

Emily J Patterson; Christopher S Langlo; Byron L Lam; Christine Nichols Kay; Mark E Pennesi; Richard G Weleber; Gerald A Fishman; William W Hauswirth; Joseph Carroll

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

Retina August 2016

Residual Foveal Cone Structure in CNGB3 -Associated Achromatopsia

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Christopher S. Langlo; Emily J. Patterson; Brian P. Higgins; Phyllis Summerfelt; Moataz M. Razeen; Laura R. Erker; Maria Parker; Frederick T. Collison; Gerald A. Fishman; Christine N. Kay; Jing Zhang; Richard G. Weleber; Paul Yang; David J. Wilson; Mark E. Pennesi; Byron L. Lam; John Chiang; Jeffrey D. Chulay; Alfredo Dubra; William W. Hauswirth; Joseph Carroll; for the ACHM-001 Study Group
TAGS: retinal cone, achromatopsia
Invest. Ophthalmol. Vis. Sci.. 2016; 57(10):3984-3995. doi: 10.1167/iovs.16-19313

Includes: Supplemental Content

Articles March 2016

Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease

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Moataz M. Razeen; Robert F. Cooper; Christopher S. Langlo; Mara R. Goldberg; Melissa A. Wilk; Dennis P. Han; Thomas B. Connor, Jr.; Gerald A. Fishman; Frederick T. Collison; Yusufu N. Sulai; Alfredo Dubra; Joseph Carroll; Kimberly E. Stepien
TAGS: retinal cone, photoreceptors, mosaicism, retina, stargardt's disease
Trans. Vis. Sci. Tech.. 2016; 5(2):6. doi: 10.1167/tvst.5.2.6

Includes: Supplemental Content

Retina November 2015

Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients

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Frederick T. Collison; Jason C. Park; Gerald A. Fishman; J. Jason McAnany; Edwin M. Stone
TAGS: color, retinal cone, pupil, rod photoreceptors, leber's amaurosis, melanopsin, luminance, pupillometry
Invest. Ophthalmol. Vis. Sci.. 2015; 56(12):7130-7136. doi: 10.1167/iovs.15-17467

Multidisciplinary Ophthalmic Imaging July 2015

Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease

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Jason C. Park; Frederick T. Collison; Gerald A. Fishman; Rando Allikmets; Jana Zernant; Michelle Liu; J. Jason McAnany
TAGS: retina, stargardt's disease, optical coherence tomography
Invest. Ophthalmol. Vis. Sci.. 2015; 56(8):4662-4667. doi: 10.1167/iovs.15-16955

ARVO Annual Meeting Abstract June 2015

Vision Improvement After Retreatment with an Oral Synthetic cis -Retinoid (QLT091001) in Subjects with LCA or RP due to Mutations in RPE65 or LRAT

Hendrik P Scholl; Robert K Koenekoop; Anthony T Moore; Eberhart Zrenner; L Ingeborgh Van Den Born; Gerald A Fishman; Gislin Dagnelie; Ronald A Schuchard; David A Saperstein; Sushanta Mallick; RET IRD 02 Study Group

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1285. doi:

ARVO Annual Meeting Abstract June 2015

Structural and functional monitoring of extramacular cystoid spaces in X-linked retinoschisis treated with carbonic anhydrase inhibitors

Frederick T Collison; Gerald A. Fishman

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3833. doi:

ARVO Annual Meeting Abstract June 2015

Longitudinal Imaging of Foveal Cone Structure in Congenital Achromatopsia

Christopher S Langlo; Frederick T Collison; Phyllis Summerfelt; Carol White; Alfredo Dubra; William W Hauswirth; Gerald A Fishman; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4017. doi:

ARVO Annual Meeting Abstract June 2015

Abnormal rod- and cone-isolated flicker electroretinograms in carriers of X-linked retinoschisis

J Jason McAnany; Jason C Park; Frederick T Collison; Gerald A Fishman

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):478. doi:

ARVO Annual Meeting Abstract June 2015

Objective analysis of outer retinal layers imaged by optical coherence tomography in patients with Stargardt disease.

Jason C Park; Frederick T Collison; Gerald A Fishman; Rando Allikmets; Jana Zernant; J Jason McAnany

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):587. doi:

ARVO Annual Meeting Abstract June 2015

Whole-exome sequencing in patients with STGD ( ABCA4 )-like phenotypes

Yajing Xie; Winston Lee; Stephen H Tsang; Gerald A Fishman; Frederick T Collison; Rosa Riveiro-Alvarez; Carmen Ayuso; Tomasz Gambin; James R. Lupski; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2863. doi:

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Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy

Interocular symmetry of foveal cone topography in achromatopsia (ACHM)

North Carolina macular dystrophy: mutations found in 12 additional families

Visual acuity in Stargardt disease patients after age 40

Frequent hypomorphic alleles solve 80% of late-onset ABCA4 disease and distinguish it from age-related macular degeneration

Full-field measures of visual function in X-linked retinoschisis: comparison of ERGs, luminance thresholds, and pupil responses

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

Assessing Cone Structure in Achromatopsia With AOSLO and SDOCT

Two-color pupillometry in enhanced S-cone syndrome

Assessing color vision in congenital achromatopsia

Residual Foveal Cone Structure in CNGB3 -Associated Achromatopsia

Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease

Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients

Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease

Vision Improvement After Retreatment with an Oral Synthetic cis -Retinoid (QLT091001) in Subjects with LCA or RP due to Mutations in RPE65 or LRAT

Structural and functional monitoring of extramacular cystoid spaces in X-linked retinoschisis treated with carbonic anhydrase inhibitors

Longitudinal Imaging of Foveal Cone Structure in Congenital Achromatopsia

Abnormal rod- and cone-isolated flicker electroretinograms in carriers of X-linked retinoschisis

Objective analysis of outer retinal layers imaged by optical coherence tomography in patients with Stargardt disease.

Whole-exome sequencing in patients with STGD ( ABCA4 )-like phenotypes

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