Erin C. O'neil

Ophthalmology

3500 Civic Center Blvd
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 24 publications

Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype.

Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype.

Journal: Ophthalmic genetics

Published: March 30, 2026

A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.

A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.

Journal: Retinal cases & brief reports

Published: January 27, 2026

Inherited retinal degenerations: clinical phenotypes and emerging therapies.

Inherited retinal degenerations: clinical phenotypes and emerging therapies.

Journal: Lancet (London, England)

Published: January 07, 2026

Onset of Ocular Abnormalities in Children with Hearing Loss.

Onset of Ocular Abnormalities in Children with Hearing Loss.

Journal: Ophthalmology

Published: September 01, 2025

Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.

Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.

Journal: Ophthalmic genetics

Published: March 27, 2025

Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.

Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: January 13, 2025

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.

Journal: Investigative ophthalmology & visual science

Published: December 18, 2024

Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness.

Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness.

Journal: American journal of ophthalmology case reports

Published: August 05, 2023

Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.

Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.

Journal: Brain sciences

Published: July 08, 2023

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.

Journal: The British journal of ophthalmology

Published: April 12, 2023

Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations.

Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations.

Journal: Translational vision science & technology

Published: January 30, 2023

Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.

Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.

Journal: Ophthalmic genetics

Published: December 05, 2022

Showing 1-12 of 24

Last Updated: 09/26/2026