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ARVO Annual Meeting Abstract June 2020

Towards an objective structural grading scheme of foveal hypoplasia in human albinism

Erica N. Woertz; Gelique Ayala; Niamh Wynne; Taylor M. Dunn; Deborah Costakos; C. Gail Summers; Sasha Strul; Arlene V Drack; Joseph Carroll

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):5261. doi:

ARVO Annual Meeting Abstract June 2020

Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene

Stephen R Russell; Arlene V Drack; Artur V Cideciyan; Samuel G Jacobson; Bart Peter Leroy; Wanda L. Pfeifer; Alina V. Dumitrescu; Alexandra V. Garafolo; Allen C. Ho; Caroline Van Cauwenbergh; Julie De Zaeytijd; Aniz Girach; Wil den Hollander; Mike Schwartz; David M. Rodman

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):866. doi:

ARVO Annual Meeting Abstract June 2020

Retinal degeneration in BBS10 mice is ameliorated by subretinal gene replacement

Arlene V Drack; Sajag Bhattarai; Jacintha Thomas; Elliot Stalter; Poppy Datta; ying Hsu; Janelle Garrison; Charles Searby; Luk H Vandenberghe; Elise Heon; Seongjin Seo; Val C Sheffield

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1914. doi:

ARVO Annual Meeting Abstract June 2020

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Ine Strubbe; Jacque L Duncan; Arlene V Drack; Andrea L Vincent; Tomas Aleman; Caroline Van Cauwenbergh; Elfride De Baere; Helene Dollfus; Nathalie Goetz; Bart Peter Leroy; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4463. doi:

Retina March 2020

Assessing Ganglion Cell Layer Topography in Human Albinism Using Optical Coherence Tomography

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Erica N. Woertz; Bisola S. Omoba; Taylor M. Dunn; Stephanie J. Chiu; Sina Farsiu; Sasha Strul; C. Gail Summers; Arlene V. Drack; Joseph Carroll
TAGS: albinism, optical coherence tomography, ganglia
Invest. Ophthalmol. Vis. Sci.. 2020; 61(3):36. doi: https://doi.org/10.1167/iovs.61.3.36

Includes: Multimedia, Supplemental Content

ARVO Annual Meeting Abstract July 2019

CEP290 -associated LCA due to a photoreceptor cilium defect treated with an intravitreal antisense oligonucleotide results in improved vision

Artur V Cideciyan; Samuel G Jacobson; Arlene V Drack; Allen C Ho; Alexandra Garafalo; Alejandro J Roman; Mike Schwartz; Patricia Biasutto; Wilma de Wit; Michael E Cheetham; Peter S Adamson; David Rodman; Julie De Zaeytijd; Caroline Van Cauwenbergh; Bart P Leroy; Stephen R Russell

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1834. doi:

ARVO Annual Meeting Abstract July 2019

AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis

Brittni A Scruggs; Sajag Bhattarai; Ioana Cherascu; Megan Helms; Adisa Salesevic; Joseph Laird; Sheila A Baker; Budd Tucker; Arlene V Drack

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4212. doi:

ARVO Annual Meeting Abstract July 2018

Determination of the optimal time window for gene replacement therapies for blindness using an inducible rescue mouse model of Bardet-Biedl Syndrome

Ying Hsu; Janelle Garrison; Gunhee Kim; Arlene V Drack; Darryl Nishimura; Seongjin Seo; Val C. Sheffield

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3962. doi:

ARVO Annual Meeting Abstract June 2017

Severe congenital stationary night blindness due to GUCY2D mutations

Scott E Brodie; Arlene V Drack; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2773. doi:

ARVO Annual Meeting Abstract June 2017

Whole genome sequencing to find missing alleles in patients with retinal disease.

Adam P DeLuca; Heather T Daggett; Jade S East; Arlene V Drack; Todd E Scheetz; Val Sheffield; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2756. doi:

ARVO Annual Meeting Abstract September 2016

Electrophysiology and anatomy of the retina in albinism: is there a correlation with visual acuity?

Arlene V Drack; Zhaohui hu; Taylor Kehoe; Andrew Kemerley; Megan Helms; Sajag Bhattarai; wanda pfeifer

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3602. doi:

ARVO Annual Meeting Abstract June 2015

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in BBS

Seongjin Seo; Poppy Datta; Chantal Allamargot; Joseph Hudson; Emily Andersen; Sajag Bhattarai; Arlene V Drack

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4644. doi:

ARVO Annual Meeting Abstract June 2015

Effect of operating microscope light on retinal function in common laboratory mice strains

Arlene V Drack; Uma Balakrishnan; Andrew Kemerley; Nicole Tatro; Alina Valentina Dumitrescu; Stewart Thompson; Sajag Bhattarai

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5415. doi:

ARVO Annual Meeting Abstract June 2015

Genetic testing for congenital cataract

Matthew C Weed; Scott R Lambert; Scott A Larson; Richard J Olson; Susannah Q Longmuir; Adam P DeLuca; Elizabeth L Kennedy; Edwin M Stone; Arlene V Drack

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2526. doi:

ARVO Annual Meeting Abstract April 2014

Using patient-derived iPSCs to identify new drug treatments for JNCL

Luke A Wiley; Kristin Anfinson; Emily E Kaalberg; Suruchi Shrestha; Svetha Swaminathan; Arlene V Drack; Robert Mullins; Edwin M Stone; Budd A Tucker

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):2675. doi:

ARVO Annual Meeting Abstract April 2014

Gene Therapy for MAK-associated RP

Edwin M Stone; Arlene V Drack; Rebecca M Johnston; Heather T Daggett; Jeremy M Hoffmann; Christine M Hass; Jessica A Penticoff; Malia M Collins; Robert Mullins; Budd A Tucker

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):2676. doi:

ARVO Annual Meeting Abstract April 2014

Is TRPM1 associated Congenital Stationary Night Blindness stationary?

Wanda L Pfeifer; Richard J Olson; Susannah Q Longmuir; Arlene V Drack

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3287. doi:

ARVO Annual Meeting Abstract April 2014

CEP290 gene addition rescues ciliogenesis in LCA patient cells.

Erin R Burnight; Luke A Wiley; Arlene V Drack; Terry A Braun; Kristin Anfinson; Emily E Kaalberg; Jennifer Halder; Robert Mullins; Edwin M Stone; Budd A Tucker

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3300. doi:

ARVO Annual Meeting Abstract April 2014

Distinct profiles of abnormal ganglion cell activity in two forms of Leber’s congenital amaurosis (LCA): Implications for therapy

Steven F Stasheff; Kelsey N Spalding; Frederick R Blodi; Malini Shankar; Sajag Bhattarai; Stewart Thompson; Jeannette Bennicelli; Jean Bennett; Arlene V Drack

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):357. doi:

ARVO Annual Meeting Abstract April 2014

Using stem cells to develop gene therapy for Batten Disease.

Budd A Tucker; Luke A Wiley; Kristin Anfinson; Dalyz Ochoa; Jeaneen Andorf; Louisa M Affatigato; Arlene V Drack; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3986. doi:

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Towards an objective structural grading scheme of foveal hypoplasia in human albinism

Results of a phase 1b/2 trial of intravitreal (IVT) sepofarsen (QR-110) antisense oligonucleotide in Leber congenital amaurosis 10 (LCA10) due to p.Cys998X mutation in the CEP290 gene

Retinal degeneration in BBS10 mice is ameliorated by subretinal gene replacement

Natural history study of visual function in patients with BBS1 and BBS10 -related Bardet-Biedl syndrome.

Assessing Ganglion Cell Layer Topography in Human Albinism Using Optical Coherence Tomography

CEP290 -associated LCA due to a photoreceptor cilium defect treated with an intravitreal antisense oligonucleotide results in improved vision

AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis

Determination of the optimal time window for gene replacement therapies for blindness using an inducible rescue mouse model of Bardet-Biedl Syndrome

Severe congenital stationary night blindness due to GUCY2D mutations

Whole genome sequencing to find missing alleles in patients with retinal disease.

Electrophysiology and anatomy of the retina in albinism: is there a correlation with visual acuity?

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in BBS

Effect of operating microscope light on retinal function in common laboratory mice strains

Genetic testing for congenital cataract

Using patient-derived iPSCs to identify new drug treatments for JNCL

Gene Therapy for MAK-associated RP

Is TRPM1 associated Congenital Stationary Night Blindness stationary?

CEP290 gene addition rescues ciliogenesis in LCA patient cells.

Distinct profiles of abnormal ganglion cell activity in two forms of Leber’s congenital amaurosis (LCA): Implications for therapy

Using stem cells to develop gene therapy for Batten Disease.

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