Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome
This study underscores the utility of NGS in diagnosing INS-associated IODs, providing essential insights for targeted interventions and identifying patients as candidates potentially eligible for ongoing gene-based therapy clinical trials.
Authors
- Ian P. Boydstun
- Richard W. Hertle (ORCID: https://orcid.org/0000-0002-5396-9910)
- William Lawhon
- Palak B. Wall
- Nancy Hanna
- E. Eugenie Hartmann (ORCID: https://orcid.org/0000-0002-9458-1509)
- Xiujie Gong (ORCID: https://orcid.org/0009-0009-8687-0763)
- Aaron Flickinger
Institutions
- Akron Children's Hospital (US)
- Northeast Ohio Medical University (US)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-04-15
- DOI
- https://doi.org/10.1167/iovs.66.4.39
- Citations
- 2
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 2.33