Erin O'Neil, MD
Instructor A of Ophthalmology
Attending Physician, Division of Ophthalmology, Children's Hospital of Philadelphia
Instructor of Ophthalmology, University of Pennsylvania
Department: Ophthalmology
Contact information
3500 Civic Center Blvd.
11th Floor Ophthalmology
Philadelphia, PA 19104
11th Floor Ophthalmology
Philadelphia, PA 19104
Publications
Education:
BA
Pomona College, 2007.
MD
Perelman School of Medicine, University of Pennsylvania, 2016.
Permanent linkBA
Pomona College, 2007.
MD
Perelman School of Medicine, University of Pennsylvania, 2016.
Description of Clinical Expertise
I am a practicing Ophthalmologist trained in the diagnosis, evaluation, and management of inherited retinal diseases (IRDs) and pediatric visual function.Description of Research Expertise
As an NIH K12 funded clinician-scientist, I am focused exclusively on visual function and retinal structure in pediatric IRDs with an aim to improve the outcome measure landscape and facilitate clinical development of gene and small molecule based therapies for these diseases.Selected Publications
Aleman TS, Roman AJ, Uyhazi KE, Jiang YY, Bedoukian EC, Sumaroka A, Wu V, Swider M, Viarbitskaya I, Russell RC, Shagena EO, Santos AJ, Serrano LW, Parchinski KM, Kim RJ, Weber ML, Garafalo AV, Thompson DA, Maguire AM, Bennett J, Scoles DH, O'Neil EC, Morgan JIW, Cideciyan AV.: Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients. Invest Ophthalmol Vis Sci 65(14), Dec 2024.Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME.: Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study. Br J Ophthalmol Page: ePub ahead of Print, Jul 2024.
Cohen DC, Sumaroka A, Paulos JA, Mitchell TC, Santos AJ, O'Neil EC, Bedoukian EC, Adamus G, Cideciyan AV, Aleman TS.: Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness. Am J Ophthalmol Case Rep 36(102098), Jul 2024.
Peixoto de Barcelos I, Li D, Watson D, M McCormick E, Elden L, Aleman TS, O'Neil EC, J Falk M, Hakonarson H.: Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient. Brain Sci 13(8), Aug 2023.
Tauqeer Z, O'Neil EC, Brucker AJ, Aleman TS.: NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY. Retin Cases Brief Rep 17(4): 352-358, Jul 2023.
O’Neil EC, Qin V, Weber ML, Uyhazi KE, Scoles D, Jiang YY, Maguire AM, Bennett J, Morgan JIW, Aleman TS. : Structural and functional relationships in RDH12-associated early-onset severe inherited retinal degeneration. 2023 Annual Meeting of ARVO, New Orleans, LA. Notes: poster May 2023.
Bulas S, Bedoukian EC, O'Neil EC, Krantz ID, Yum SW, Liu GT, Aleman TS.: Ocular Biomarkers of Riboflavin Transporter Deficiency. J Neuroophthalmol 43(1): 110-115, Mar 2023.
Bennett J, Aleman EM, Maguire KH, Nadelmann J, Weber ML, Maguire WM, Maja A, O'Neil EC, Maguire AM, Miller AJ, Aleman TS.: Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations. Transl Vis Sci Technol 12(1), Jan 2023.
Aleman TS, O'Neil EC, Uyhazi KE, Parchinski KM, Santos AJ, Weber ML, Colclough SP, Billek AS, Zhu X, Leroy BP, Bedoukian EC.: Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series. Ophthalmic Genet 43(6): 824-833, Dec 2022.
O'Neil EC, Uyhazi KE, O'Connor K, Aleman IA, Pulido JS, Rossano JW, Aleman TS.: DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE. Retin Cases Brief Rep 16(6): 707-713, Nov 2022.