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.

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, Frees KL, Booth KT, Wang D, Weaver AE, Azaiez H, Kamholz J, Smith RJH, Drack AV

Ophthalmic Genetics Mar 22 2020
Pubmed ID: 32281467
Assessing Ganglion Cell Layer Topography in Human Albinism Using Optical Coherence Tomography

Woertz EN, Omoba BS, Dunn TM, Chiu SJ, Farsiu S, Strul S, Summers CG, Drack AV, Carroll J

Investigative Ophthalmology & Visual Science Mar 9 2020
Pubmed ID: 32196097
Efficacy of topical brinzolamide in children with retinal dystrophies

Scruggs BA, Chen CV, Pfeifer W, Wiley JS, Wang K, Drack AV

Ophthalmic genetics. Sep 9 2019
Pubmed ID: 31496370
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force

Drack AV, Miraldi Utz V, Wang K, Alcorn DM, Brooks BP, Costakos DM, Couser NL, Heon E, Levin AV, Lloyd IC, Morse CL, Schmitt MA, Whitman MC, Traboulsi EI14

Journal of the American Association for Pediatric Ophthalmology and Strabismus. Jun 21 2019
Pubmed ID: 31233830
Correlation between electroretinography, foveal anatomy and visual acuity in albinism

Hu Z, Wang K, Bertsch M, Dunn T, Kehoe T, Kemerley AD, Helms M, Bhattarai S, Pfeifer W, Scheetz TE, Drack AV

Documenta Ophthalmologica. Advances in Ophthalmology. Mar 29 2019
Pubmed ID: 30927186
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Cideciyan AV, Jacobson SG, Drack AV, Ho AC, Charng J, Garafalo AV, Roman AJ, Sumaroka A, Han IC, Hochstedler MD, Pfeifer WL, Sohn EH, Taiel M, Schwartz MR, Biasutto P, Wit W, Cheetham ME, Adamson P, Rodman DM, Platenburg G, et al.

Nature medicine. Dec 18 2018
Pubmed ID: 30559420
Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis

Han IC, Whitmore SS, Critser DB, Lee SY, DeLuca AP, Daggett HT, Affatigato LM, Mullins RF, Tucker BA, Drack AV, Stone EM

Ophthalmology. Retina. Sep 19 2018
Pubmed ID: 31014769
Determination of the optimal time window for gene replacement therapies for blindness using an inducible rescue mouse model of Bardet-Biedl Syndrome

Hsu, Y, Garrison J, Kim G, Drack AV, Nishimura D, Seo, S and Sheffield VC

Investigative Ophthalmology and Visual Science. Jul 1 2018
Pubmed ID:
Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D

Maria L. Stunkel, Scott E. Brodie, Artur V. Cideciyan, Wanda L. Pfeifer, Elizabeth L. Kennedy, Edwin M. Stone, Samuel G. Jacobson, Arlene V. Drack

American Journal of Opthalmology Jun 1 2018
Pubmed ID: 29559409
Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV

JAMA Ophthalmology Apr 1 2018
Pubmed ID: 29522070

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