Publications

The following are recent publications from the members of this lab. Click on the title of a publication to read its abstract, or follow the Pubmed ID link to view the Pubmed entry.

Electroretinography as a Tool in Distinguishing Bardet-Biedl and Alström Syndromes in Early Childhood

Amy V Whittington, Scott R Lambert, William B Dasher, Arlene V Drack

Update on Strabismus and Pediatric Ophthalmology Proceedings of the June, 1994 Joint ISA and AAPO&S Meeting, Vancouver, Canada Dec 20 2024
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Children often present to the pediatric ophthalmologist because of a family history of eye disease. A common cause for such referrals is an autosomal dominant retinal dystrophy diagnosed in older family members. Clinical evaluation of the children in the

Arlene V Drack, Brian E Nichols, Val C Sheffield, Edwin M Stone

Update on Strabismus and Pediatric Ophthalmology Proceedings of the June, 1994 Joint ISA and AAPO&S Meeting, Vancouver, Canada Dec 20 2024
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Editorial: X-linked retinoschisis: mechanisms and therapies

Alina V Dumitrescu, Mary Elizabeth Hartnett, Arlene V Drack

Frontiers in medicine Dec 18 2024
Pubmed ID: 39744531
Adeno-associated virus (AAV) is a safe and efficient gene delivery vehicle for gene therapies. However, its relatively small packaging capacity limits its use as a gene transfer vector. Here, we describe a strategy to deliver large genes that exceed the A

Poppy Datta, Kun-Do Rhee, Rylee J Staudt, Jacob M Thompson, Ying Hsu, Salma Hassan, Arlene V Drack, Seongjin Seo

Human molecular genetics Dec 15 2024
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CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness

Alina V Dumitrescu, Wanda L Pfeifer, Monica Arhens, Jeaneen L Andorf, Arlene V Drack

Canadian journal of ophthalmology Dec 1 2024
Pubmed ID: 38159912
An osmolarity dependent mechanism partially ameliorates retinal cysts and rescues cone function in a mouse model of X-linked retinoschisis

Ella J Gehrke, Jacob Thompson, Emily Kalmanek, Sarah T Stanley, Joseph Laird, Sajag Bhattarai, Brianna Lobeck, Sara Mayer, Angela Mahoney, Salma Hassan, Ying Hsu, Arlene Drack

Frontiers in medicine Oct 15 2024
Pubmed ID: 39473494
Contribution of intraflagellar transport to compartmentalizationand maintenance of the photoreceptor cell

Tylor R Lewis, Carson M Castillo, Natalia V Klementieva, Ying Hsu, Ying Hao, William J Spencer, Arlene V Drack, Gregory J Pazour, Vadim Y Arshavsky

Proceedings of the National Academy of Sciences Aug 20 2024
Pubmed ID: 39145934
A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease

Beau J Fenner, S Scott Whitmore, Adam P DeLuca, Jean L Andorf, Heather T Daggett, Meagan A Luse, Lorena M Haefeli, Janet B Riley, Douglas B Critser, Mark E Wilkinson, Alina V Dumitrescu, Arlene V Drack, Timothy M Boyce, Jonathan F Russell, Elaine M Binkle

Ophthalmology Aug 1 2024
Pubmed ID: 38309476
Investigating the role of Caspase-1 in a mouse model of Juvenile X-linked Retinoschisis

Ella J Gehrke, Araniko Pandey, Jacob Thompson, Sajag Bhattarai, Prajwal Gurung, Ying Hsu, Arlene V Drack

Frontiers in medicine Jun 13 2024
Pubmed ID: 38938378
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism

Erica N Woertz, Gelique D Ayala, Niamh Wynne, Sergey Tarima, Serena Zacharias, Murray H Brilliant, Taylor M Dunn, Deborah Costakos, C Gail Summers, Sasha Strul, Arlene V Drack, Joseph Carroll

Investigative ophthalmology & visual science Mar 5 2024
Pubmed ID: 38441889

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