Erin O'Neil, MD
Assistant Professor of Ophthalmology at the Children's Hospital of Philadelphia
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, Uyhazi KE, Roman AJ, Weber ML, O’Neil EC, Swider M, Sumaroka A, Maguire KH, Aleman EM, Santos AJ, Kim RJ, Parchinski KM, Billek A, Fradin M, Chun W, Margaritis P, Sun J, Scoles D, Wu V, Garafalo AV, Jayagopal A, Yerxa B, Tuller S, Maguire AM, Bennett JB, Cideciyan AV. : Recovery of Cone-Mediated Vision in a Severe Retinal Ciliopathy after Gene Therapy: One Year Results of a Phase Ib/IIa Trial. Molecular Therapy July 2025.Zhong A, Sumaroka A, Tsui JC, O'Neil EC, Cideciyan AV, Datz E, Bedoukian EC, Aleman TS, Scoles D. : Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy. Ophthalmic Genetics March 2025.
O’Neil EC, Bedoukian EC, Datz E, Scoles DH, Sumaroka A, Roman AJ, Cideciyan AV, Aleman TS. : Detailed Structural and Functional Observations of early retinal degeneration due to MYO7A-related Usher Syndrome Type 1B. Annual Meeting of ARVO, Salt Lake City, UT. 2025 Notes: poster.
Chen A, Choi K, O’Neil EC, Yu Y, Binenbaum G. : Onset of Ocular Abnormalities in Children with Hearing Loss. 2025 Annual Meeting of ARVO, Salt Lake City, UT. 2025 Notes: poster.
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.