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Retina September 2018

Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years

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Artur V. Cideciyan; Jason Charng; Alejandro J. Roman; Rebecca Sheplock; Alexandra V. Garafalo; Elise Heon; Samuel G. Jacobson
TAGS: gene therapy, mutation, retinal cone, perimetry, retinitis pigmentosa, vision, visual fields, x-linked inheritance, rod photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4558-4566. doi: 10.1167/iovs.18-24931

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

Karina E Guziewicz; Artur V Cideciyan; William A Beltran; Andras M Komaromy; Valerie Dufour; Malgorzata Swider; Simone Iwabe; Alexander Sumaroka; Brian T Kendrick; Gordon Ruthel; Vince A Chiodo; Elise Heon; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4522. doi:

ARVO Annual Meeting Abstract July 2018

Characterization of retinal structure in ATF6 -associated achromatopsia

Rebecca Mastey; Michalis Georgiou; Christopher S Langlo; Angelos Kalitzeos; Ajoy Vincent; Anthony T Moore; Stephen H. Tsang; Jonathan H Lin; Marielle Young; M Elizabeth Hartnett; Elise Heon; Susanne Kohl; Michel Michaelides; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):669. doi:

Genetics August 2017

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

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Christina Gerth-Kahlert; Amit Tiwari; James V. M. Hanson; Vaishnavi Batmanabane; Elias Traboulsi; Mark E. Pennesi; Abdullah A. Al-Qahtani; Byron L. Lam; John Heckenlively; Sandrine A. Zweifel; Ajoy Vincent; Fabienne Fierz; Daniel Barthelmes; Kari Branham; Naheed Khan; Angela Bahr; Luzy Baehr; István Magyar; Samuel Koller; Silvia Azzarello-Burri; Dunja Niedrist; Elise Heon; Wolfgang Berger
TAGS: phenotype, mutation, genes, retinitis pigmentosa, autosomal recessive inheritance, macular disorders, morphology, de novo mutation, language morphology
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3840-3850. doi: 10.1167/iovs.17-21597

Retina June 2017

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

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Jason Charng; Samuel G. Jacobson; Elise Heon; Alejandro J. Roman; David B. McGuigan, III; Rebecca Sheplock; Mychajlo S. Kosyk; Malgorzata Swider; Artur V. Cideciyan
TAGS: blindness, photoreceptors, pupil, retinal ganglion cells, reflex, luminance
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3215-3224. doi: 10.1167/iovs.17-21909

Includes: Supplemental Content

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

The range of retinal phenotypes in CNGB3 related disease

Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2764. doi:

ARVO Annual Meeting Abstract June 2017

Dysplasia and degeneration in NR2E3 retinopathy: an imaging study

Rola Ba-Abbad; Ajoy Vincent; Adam M Dubis; Katelyn MacNeill; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3224. doi:

ARVO Annual Meeting Abstract June 2017

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

Artur V Cideciyan; Jason Charng; Samuel G Jacobson; Alexander Sumaroka; Sharon B. Schwartz; Malgorzata Swider; Alejandro J Roman; Rebecca Sheplock; Manisha Anand; Marc C. Peden; Hemant Khanna; Elise Heon; Alan F. Wright; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3232. doi:

ARVO Annual Meeting Abstract June 2017

Retinal sensitivity and fixation stability as surrogate markers of visual function in molecularly confirmed choroideremia patients.

Vaishnavi Batmanabane; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3283. doi:

ARVO Annual Meeting Abstract June 2017

Human Melanopic Pupillary Responses Isolated from Outer Retinal Photoreceptor Input in LCA Patients with Severe Vision Loss

Jason Charng; Samuel G Jacobson; Elise Heon; Alejandro J Roman; David B. McGuigan; Rebecca Sheplock; Mychajlo S. Kosyk; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4135. doi:

ARVO Annual Meeting Abstract September 2016

Fragile Maculas in Patients with Retinal Degeneration due to RPGR - ORF15 Mutations: Spatio-temporal Models of Disease Progression

Jason Charng; Malgorzata Swider; Rebecca Sheplock; Alexander Sumaroka; Alejandro J Roman; Marc Christopher Peden; Elise Heon; Sharon B Schwartz; Samuel G Jacobson; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):156. doi:

ARVO Annual Meeting Abstract September 2016

Screening for vestibular impairment in congenital neurosensory hearing loss identifies a population at high risk of ocular anomalies, including Usher syndrome

Vaishnavi Batmanabane; Tianyang Dai; Stephanie Kletke; Ajoy Vincent; Blake C Papsin; Sharon L. Cushing; Jeff Locke; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):1563. doi:

ARVO Annual Meeting Abstract September 2016

Functional Diversity of Human ATF6 Mutations Associated with Achromatopsia

Wei-Chieh Chiang; Priscilla Chan; Susanne Kohl; Ajoy Vincent; Anna Skorczyk-Werner; Maciej Robert Krawczynski; Stephen H Tsang; Elise Heon; Bernd Wissinger; Jonathan H Lin

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3183. doi:

ARVO Annual Meeting Abstract September 2016

Early delivery of children with prenatal RB1 mutation identification at risk for retinoblastoma

Brenda L Gallie; Sameh E. Soliman; Vikas Khetan; Elise Heon; Helen Chan

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

ARVO Annual Meeting Abstract September 2016

SRD5A3 : a gene for complex LCA and early onset retinal dystrophy

Elise Heon; Shuning Li; Erika Tavares; Heather Macdonald; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3134. doi:

ARVO Annual Meeting Abstract September 2016

Whole Exome Sequencing Identifies Mutations in GNB3 to Cause a Novel Congenital Stationary Night Blindness Phenotype

Ajoy Vincent; Erika Tavares; Isabelle S Audo; jason maynes; Shuning Li; Christelle Michiels; Anupreet Tumber; Heather Macdonald; Chelsea Roadhouse; Christina Zeitz; Elise Heon

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

Articles July 2016

Visual Function and Central Retinal Structure in Choroideremia

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Elise Heon; Talal Alabduljalil; David B. McGuigan, III; Artur V. Cideciyan; Shuning Li; Shiyi Chen; Samuel G. Jacobson
TAGS: mutation, choroideremia, natural history, vision, visual acuity, visual fields, retina
Invest. Ophthalmol. Vis. Sci.. 2016; 57(9):OCT377-OCT387. doi: 10.1167/iovs.15-18421

ARVO Annual Meeting Abstract June 2015

Phenotypic characteristics and natural history of choroideremia.

Talal Alabduljalil; Marcela Paz Perez Araya; Heather Trang; Vaishnavi Batmanabe; Chelsea Roadhouse; Elise Heon; Ajoy Vincent; Ophthalmic genetics - SickKids

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3838. doi:

ARVO Annual Meeting Abstract June 2015

RPE65 is the predominant LCA gene in a Canadian ethnically diverse LCA patient population.

Elise Heon; Marcela Perez-Araya; Heather Trang; Chelsea Roadhouse; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3847. doi:

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Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

Characterization of retinal structure in ATF6 -associated achromatopsia

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

North Carolina macular dystrophy: mutations found in 12 additional families

The range of retinal phenotypes in CNGB3 related disease

Dysplasia and degeneration in NR2E3 retinopathy: an imaging study

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

Retinal sensitivity and fixation stability as surrogate markers of visual function in molecularly confirmed choroideremia patients.

Human Melanopic Pupillary Responses Isolated from Outer Retinal Photoreceptor Input in LCA Patients with Severe Vision Loss

Fragile Maculas in Patients with Retinal Degeneration due to RPGR - ORF15 Mutations: Spatio-temporal Models of Disease Progression

Screening for vestibular impairment in congenital neurosensory hearing loss identifies a population at high risk of ocular anomalies, including Usher syndrome

Functional Diversity of Human ATF6 Mutations Associated with Achromatopsia

Early delivery of children with prenatal RB1 mutation identification at risk for retinoblastoma

SRD5A3 : a gene for complex LCA and early onset retinal dystrophy

Whole Exome Sequencing Identifies Mutations in GNB3 to Cause a Novel Congenital Stationary Night Blindness Phenotype

Visual Function and Central Retinal Structure in Choroideremia

Phenotypic characteristics and natural history of choroideremia.

RPE65 is the predominant LCA gene in a Canadian ethnically diverse LCA patient population.

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