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Genetics May 2021

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy

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Tyler A. Pfister; Wadih M. Zein; Catherine A. Cukras; Hatice N. Sen; Ramiro S. Maldonado; Laryssa A. Huryn; Robert B. Hufnagel
TAGS: autosomal recessive inheritance, bestrophinopathy, genetics, genotype, phenotype, vitelliform dystrophy, best1 gene, meta-analysis
Invest. Ophthalmol. Vis. Sci.. 2021; 62(6):22. doi: https://doi.org/10.1167/iovs.62.6.22

Includes: Supplemental Content

Clinical and Epidemiologic Research October 2020

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults

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Malena Daich Varela; Ehsan Ullah; Sairah Yousaf; Brian P. Brooks; Robert B. Hufnagel; Laryssa A. Huryn
TAGS: adult, atypical, child, color, mutation, phenotype, eye, pathologic nystagmus, electroretinography, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2020; 61(12):1. doi: https://doi.org/10.1167/iovs.61.12.1

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Elucidating the genotypic spectrum of nanophthalmos and high hyperopia

Lev Prasov; Bin Guan; Ehsan Ullah; Sayoko Eileen Moroi; Steven M Archer; Laurel Wiinikka-Buesser; Christine A. Rygiel; Sarah J. Garnai; Jasmine Serpen; Laryssa Huryn; Hemant Pawar; Brian Brooks; Julia E. richards; Robert Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1251. doi:

ARVO Annual Meeting Abstract June 2020

Ophthalmic Manifestations of Williams Syndrome

Laryssa Huryn; Rosalie Nolen; Lev Prasov; Mark D Levin; Wadih M Zein; Brian Patrick Brooks; Robert Hufnagel; Beth Kozel

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2144. doi:

ARVO Annual Meeting Abstract June 2020

Visual Acuity in a Large USH2A Cohort

Rosalie Nolen; Robert Hufnagel; Amy Turriff; Thomas Friedman; Ehsan Ullah; Laryssa Huryn; Catherine Cukras; Brett Jeffrey; Ekaterini Tsilou; Brian Brooks; Wadih Zein

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3021. doi:

ARVO Annual Meeting Abstract June 2020

Functional consequences of disrupted cone photoreceptor reflectivity visualized using multimodal adaptive optics retinal imaging in oligocone trichromacy

Joanne Li; Tao Liu; Oliver Flynn; Amy Turriff; Zhuolin Liu; Jianfei Liu; Alfredo Dubra; Robert Hufnagel; Mary A Johnson; Brian Patrick Brooks; Daniel X. Hammer; Laryssa Huryn; Brett G Jeffrey; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3026. doi:

ARVO Annual Meeting Abstract June 2020

Disruption of Cone Photoreceptors Observed Using Adaptive Optics Retinal Imaging in Spinocerebellar Ataxia Type 7 (SCA7)

Nancy Aguilera; Joanne Li; Brett Jeffrey; Andrew J. Bower; Rongwen Lu; Jianfei Liu; Albert La Spada; Brian Brooks; Laryssa Huryn; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3205. doi:

ARVO Annual Meeting Abstract June 2020

Enlarged retinal pigment epithelial cells observed in Stargardt disease assessed by adaptive optics enhanced indocyanine green ophthalmoscopy

Tao Liu; Joanne Li; Nancy Aguilera; Andrew J. Bower; Rongwen Lu; Jianfei Liu; Brian Patrick Brooks; Wadih M Zein; Laryssa Huryn; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4331. doi:

ARVO Annual Meeting Abstract June 2020

Multimodal cellular assessment of the retinal pigment epithelium using an integrated adaptive optics retinal imager

Andrew J. Bower; Tao Liu; Joanne Li; Nancy Aguilera; Jianfei Liu; Rongwen Lu; John Giannini; Laryssa Huryn; Alfredo Dubra; Zhuolin Liu; Daniel Hammer; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):226. doi:

ARVO Annual Meeting Abstract July 2019

Scotopic shape discrimination in AMD patients and healthy volunteers

Oliver J Flynn; Catherine A Cukras; Laryssa Huryn; Brett Jeffrey

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1208. doi:

ARVO Annual Meeting Abstract July 2019

Evaluation of Clinical Features in Patients with Optic Disc Drusen

Jasmine Serpen; Lev Prasov; Wadih M Zein; Catherine A Cukras; Amy Turriff; Brian Patrick Brooks; Laryssa Huryn

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4486. doi:

ARVO Annual Meeting Abstract July 2019

Spatial Variation of Rod-Mediated Function in Late-Onset Retinal Degeneration (L-ORD)

Brett G Jeffrey; Laryssa Huryn; Paul A Sieving; Catherine A Cukras

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4495. doi:

ARVO Annual Meeting Abstract July 2019

Multimodal adaptive optics assessment of photoreceptors and retinal pigment epithelial cells in eyes with vitelliform macular dystrophy

Tao Liu; Jianfei Liu; Catherine A Cukras; Wadih M Zein; Laryssa Huryn; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4610. doi:

ARVO Annual Meeting Abstract July 2019

A Novel Imaging Analysis Method to Quantify Fleck Area in ABCA4 Retinopathy

Laryssa Huryn; Ramon Jauregui; Nathan Hotaling; Wadih M Zein; Denise Cunningham; Brett G Jeffrey; Catherine A Cukras; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5425. doi:

ARVO Annual Meeting Abstract July 2019

Multimodal Adaptive Optics Imaging of the Cellular Status and Progression of the Outer Retinal Complex in Bietti Crystalline Dystrophy

Johnny Tam; Laryssa Huryn; Zhuolin Liu; Jianfei Liu; HaeWon Jung; Nancy Aguilera; Daniel Hammer; Wadih M Zein; Tao Liu

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6098. doi:

ARVO Annual Meeting Abstract July 2018

Long-term stability and repeatability of the late phase adaptive optics enhanced indocyanine green signal demonstrates potential clinical utility for evaluation of the retinal pigment epithelium

Johnny Tam; HaeWon Jung; Tao Liu; Michael Droettboom; Laryssa Huryn; Jianfei Liu

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):645. doi:

Retina June 2018

Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis

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Catherine A. Cukras; Laryssa A. Huryn; Brett G. Jeffrey; Amy Turriff; Paul A. Sieving
TAGS: electroretinography, eye, functional measures, natural history, visual acuity, x-linked retinoschisis, electrophysiology, follow-up
Invest. Ophthalmol. Vis. Sci.. 2018; 59(7):2841-2847. doi: https://doi.org/10.1167/iovs.17-23297

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Development of the Focal Electro-oculogram and its Application to Stargardt Disease

Alisa Thavikulwat; Laryssa Huryn; Wadih M Zein; Brian Patrick Brooks; Brett G Jeffrey

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1216. doi:

ARVO Annual Meeting Abstract June 2017

Optical Coherence Tomography Angiography Assessment of Retinal Degeneration in Patients with Retinitis Pigmentosa.

Ramiro Maldonado; Wadih M Zein; Robert B Hufnagel; Brian P Brooks; Laryssa Huryn

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3220. doi:

ARVO Annual Meeting Abstract June 2017

The National Eye Institute Prospective ABCA4 Retinopathy Natural History Study: Two Year Analysis of OCT and MP1

Brett G Jeffrey; Hermann Siebel; Aarti Hinduja; Wadih M Zein; Laryssa Huryn; Robert B Hufnagel; Denise Cunningham; Amy Turriff; Catherine A Cukras; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4652. doi:

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Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults

Elucidating the genotypic spectrum of nanophthalmos and high hyperopia

Ophthalmic Manifestations of Williams Syndrome

Visual Acuity in a Large USH2A Cohort

Functional consequences of disrupted cone photoreceptor reflectivity visualized using multimodal adaptive optics retinal imaging in oligocone trichromacy

Disruption of Cone Photoreceptors Observed Using Adaptive Optics Retinal Imaging in Spinocerebellar Ataxia Type 7 (SCA7)

Enlarged retinal pigment epithelial cells observed in Stargardt disease assessed by adaptive optics enhanced indocyanine green ophthalmoscopy

Multimodal cellular assessment of the retinal pigment epithelium using an integrated adaptive optics retinal imager

Scotopic shape discrimination in AMD patients and healthy volunteers

Evaluation of Clinical Features in Patients with Optic Disc Drusen

Spatial Variation of Rod-Mediated Function in Late-Onset Retinal Degeneration (L-ORD)

Multimodal adaptive optics assessment of photoreceptors and retinal pigment epithelial cells in eyes with vitelliform macular dystrophy

A Novel Imaging Analysis Method to Quantify Fleck Area in ABCA4 Retinopathy

Multimodal Adaptive Optics Imaging of the Cellular Status and Progression of the Outer Retinal Complex in Bietti Crystalline Dystrophy

Long-term stability and repeatability of the late phase adaptive optics enhanced indocyanine green signal demonstrates potential clinical utility for evaluation of the retinal pigment epithelium

Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis

Development of the Focal Electro-oculogram and its Application to Stargardt Disease

Optical Coherence Tomography Angiography Assessment of Retinal Degeneration in Patients with Retinitis Pigmentosa.

The National Eye Institute Prospective ABCA4 Retinopathy Natural History Study: Two Year Analysis of OCT and MP1

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