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ARVO Annual Meeting Abstract June 2022

The Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study on behalf of the Foveal Development Investigators Group (FDIG)

Helen Kuht; Jinu Han; Line Kessel; Mies M. van Genderen; Richard W Hertle; Karen Gronskov; Vasily Smirnov; Fred Kuanfu Chen; Rachael C Heath Jeffery; Brian Patrick Brooks; Sasha Strul; Jin Jing; Martin Tobin; Irene Gottlob; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1839. doi:

ARVO Annual Meeting Abstract June 2022

Truncating PAX6 mutations result in severe arrested retinal development with loss of cone photoreceptor specialisation: A multi-centre study

Mervyn George Thomas; Helen Kuht; Jinu Han; Gail Maconachie; Rebecca McLean; Zhanhan Tu; Viral Sheth; Martin Tobin; Brian Patrick Brooks; Elizabeth Engle; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1838. doi:

ARVO Annual Meeting Abstract June 2022

Characterization of fluorescently labeled photoreceptors observed in carriers of choroideremia using multimodal adaptive optics imaging

Andrew J. Bower; Nancy Aguilera; Sarah Abouassali; Tao Liu; Joanne Li; Rongwen Lu; John Giannini; Margery Smelkinson; Robert N Fariss; Alfredo Dubra; Zhuolin Liu; Daniel Hammer; Brian Patrick Brooks; Wadih M Zein; Laryssa Huryn; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2689. doi:

ARVO Annual Meeting Abstract June 2022

Foveal Morphology in Williams-Beuren Syndrome

Taylor Flaherty; Maximilian Pfau; Wadih M Zein; Catherine A Cukras; Lev Prasov; Brian Patrick Brooks; Robert B Hufnagel; Beth Kozel; Laryssa Huryn

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3320 – F0129. doi:

ARVO Annual Meeting Abstract June 2022

Golden-yellow fundus reflex and OCT hyper-reflectivity in RPGR retinopathy

Matthew Benson; Aime Agather; Delphine Blain; Robert B Hufnagel; Brian Patrick Brooks; Laryssa Huryn; Wadih M Zein; Catherine A Cukras

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4490 – F0277. doi:

ARVO Annual Meeting Abstract June 2022

Seeing in Color: Inclusion and Characterization of African Americans in Hereditary Eye Disease Research

Agnes C Ezekwesili; Raisa Ionin; Laryssa Huryn; Catherine A Cukras; Delphine Blain; Aime Agather; Robert B Hufnagel; Brian Patrick Brooks; Wadih M Zein

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):501 – A0078. doi:

ARVO Annual Meeting Abstract June 2022

Evaluation of ampyrone (4-aminoantipyrine), an activator of the intra-melanosomal domain of human tyrosinase, as a potential therapeutic agent for oculocutaneous albinism type 1B

VIJAY KUMAR KALASKAR; Monika Dolinska; Nathan Coussens; Sunit Dutta; Ighovie F Onojafe; Yingyos Jittayasothorn; Ramakrishna Prasad alur; Dhyanam Shukla; Robin Kee; Maria M Campos; Mones Abu-Asab; Tiziana Cogliati; YURI SERGEEV; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):676 – F0130. doi:

ARVO Annual Meeting Abstract June 2022

CRISPR -Cas9-mediated gene correction in Induced Pluripotent Stem Cells derived from Oculocutaneous Albinism Type 2 patients rescues pigmentation defect in Retinal Pigment Epithelium

Arnold Leigh; Tyler Pfister; Aman George; Ruchi Sharma; Mones Abu-Asab; Kapil Bharti; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1472. doi:

ARVO Annual Meeting Abstract June 2022

An Effective and Versatile Zebrafish Model Using CRISPR Interference to Investigate Gene Functions Regulating Eye Development.

Sunit Dutta; Guangpu Shi; Lijin Dong; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1357 – F0288. doi:

ARVO Annual Meeting Abstract June 2022

Visualization of the Photoreceptor / RPE / Choriocapillaris Complex in Choroideremia Using Adaptive Optics Enhanced Indocyanine Green Imaging

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

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):393 – F0431. doi:

Genetics April 2022

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

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Zelia Corradi; Manar Salameh; Mubeen Khan; Elise Héon; Ketan Mishra; Rebekkah J. Hitti-Malin; Yahya AlSwaiti; Alice Aslanian; Eyal Banin; Brian P. Brooks; Wadih M. Zein; Robert B. Hufnagel; Susanne Roosing; Claire‐Marie Dhaenens; Dror Sharon; Frans P. M. Cremers; Alaa AlTalbishi
TAGS: abca4 gene, introns, mutation, stargardt's disease, proband, rna splicing, exons
Invest. Ophthalmol. Vis. Sci.. 2022; 63(4):20. doi: https://doi.org/10.1167/iovs.63.4.20

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Photoreceptor Degeneration beyond Ellipsoid Zone Loss in ABCA4 -associated Retinopathy

Maximilian Pfau; Marisa Boyle; Catherine A. Cukras; Laryssa A Huryn; Wadih M Zein; Brian P. Brooks; Brett G. Jeffrey

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3215. doi:

ARVO Annual Meeting Abstract June 2021

High-resolution imaging of cone photoreceptors and retinal pigment epithelial cells in Chediak-Higashi Syndrome

Tao Liu; Nancy Aguilera; Andrew J. Bower; Jianfei Liu; Laryssa A Huryn; Wadih M Zein; Wendy J. Introne; Robert B Hufnagel; Brian P. Brooks; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1903. doi:

ARVO Annual Meeting Abstract June 2021

Genetic testing yield among patients with suspected primary heritable optic atrophy

Maureen C Farrell; Celeste D’Amanda; Ehsan Ullah; Bin Guan; Delphine Blain; Amy Turriff; Wai T Wong; Catherine A Cukras; Steven F Stasheff; Edmond J FitzGibbon; Wadih M Zein; Brian P Brooks; Laryssa A Huryn; Robert B Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1553. doi:

ARVO Annual Meeting Abstract June 2021

Clinical and Molecular Findings in a CDHR1 Retinal Dystrophy Cohort

Volha Malechka; Catherine A Cukras; Emily Y Chew; Delphine Blain; Brett G Jeffrey; Ehsan Ullah; Robert B Hufnagel; Brian Patrick Brooks; Laryssa A Huryn; Wadih M Zein

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3219. doi:

ARVO Annual Meeting Abstract June 2021

Comparison of Cone Density Measurements in Patients with Retinitis Pigmentosa and Healthy Controls using Adaptive Optics

Amisha Dave; Claire Malley; Robert Mays; Mike Arango; Laryssa Huryn; Wadih M Zein; Brian Patrick Brooks; Tharindu De Silva; Catherine A. Cukras

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3211. doi:

ARVO Annual Meeting Abstract June 2021

Subclinical Retinal Pigment Epithelium Changes Observed in Choroideremia Using Adaptive Optics Enhanced Indocyanine Green Imaging

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

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1900. doi:

ARVO Annual Meeting Abstract June 2021

A Prospective Longitudinal Four-Year Analysis of Ellipsoid Zone Loss in Stargardt Disease

Michelle A. Chen; Wadih M Zein; Laryssa Huryn; Robert B Hufnagel; Amy Turriff; Catherine A Cukras; Brian Patrick Brooks; Brett G Jeffrey

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1532. doi:

ARVO Annual Meeting Abstract June 2021

Human retinal pigment epithelium secretes insulin-like growth factor 2 in vitro

Charles DeYoung; Tyler Pfister; Congxiao Zhang; Aman George; Kapil Bharti; Tiziana Cogliati; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2991. doi:

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

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The Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study on behalf of the Foveal Development Investigators Group (FDIG)

Truncating PAX6 mutations result in severe arrested retinal development with loss of cone photoreceptor specialisation: A multi-centre study

Characterization of fluorescently labeled photoreceptors observed in carriers of choroideremia using multimodal adaptive optics imaging

Foveal Morphology in Williams-Beuren Syndrome

Golden-yellow fundus reflex and OCT hyper-reflectivity in RPGR retinopathy

Seeing in Color: Inclusion and Characterization of African Americans in Hereditary Eye Disease Research

Evaluation of ampyrone (4-aminoantipyrine), an activator of the intra-melanosomal domain of human tyrosinase, as a potential therapeutic agent for oculocutaneous albinism type 1B

CRISPR -Cas9-mediated gene correction in Induced Pluripotent Stem Cells derived from Oculocutaneous Albinism Type 2 patients rescues pigmentation defect in Retinal Pigment Epithelium

An Effective and Versatile Zebrafish Model Using CRISPR Interference to Investigate Gene Functions Regulating Eye Development.

Visualization of the Photoreceptor / RPE / Choriocapillaris Complex in Choroideremia Using Adaptive Optics Enhanced Indocyanine Green Imaging

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Photoreceptor Degeneration beyond Ellipsoid Zone Loss in ABCA4 -associated Retinopathy

High-resolution imaging of cone photoreceptors and retinal pigment epithelial cells in Chediak-Higashi Syndrome

Genetic testing yield among patients with suspected primary heritable optic atrophy

Clinical and Molecular Findings in a CDHR1 Retinal Dystrophy Cohort

Comparison of Cone Density Measurements in Patients with Retinitis Pigmentosa and Healthy Controls using Adaptive Optics

Subclinical Retinal Pigment Epithelium Changes Observed in Choroideremia Using Adaptive Optics Enhanced Indocyanine Green Imaging

A Prospective Longitudinal Four-Year Analysis of Ellipsoid Zone Loss in Stargardt Disease

Human retinal pigment epithelium secretes insulin-like growth factor 2 in vitro

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

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