Retinal Degeneration Associated With Biallelic <i>RDH12</i> Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients
Foveal cones of RDH12-LCA should be targeted with treatments aimed to slow progression, whereas peripapillary rod photoreceptors should be targeted with treatments aimed to improve night vision. Pediatric FST testing may be complicated by age-related maturation of decision making regarding threshold criteria.
Authors
- Robert C. Russell
- Leona Serrano
- Drew Scoles (ORCID: https://orcid.org/0000-0002-8942-5456)
- Alexandra V. Garafalo
- Tomás S. Alemán (ORCID: https://orcid.org/0000-0001-5709-0236)
- Jean Bennett
- Arlene J. Santos
- Dorothy Thompson (ORCID: https://orcid.org/0000-0001-5491-3911)
- Artur V. Cideciyan (ORCID: https://orcid.org/0000-0002-2018-0905)
- Rebecca J. Kim
- Alejandro J. Román (ORCID: https://orcid.org/0000-0001-7368-3007)
- Jessica I. W. Morgan (ORCID: https://orcid.org/0000-0002-9878-7336)
- Małgorzata Świder
- Alexander Sumaroka
- Emma Bedoukian (ORCID: https://orcid.org/0000-0003-3064-2488)
- Katherine E. Uyhazi (ORCID: https://orcid.org/0000-0002-4280-1397)
- Kelsey M. Parchinski
- Albert M. Maguire
- Mariejel L. Weber
- Iryna Viarbitskaya
- Yu Jiang (ORCID: https://orcid.org/0000-0001-6912-849X)
- Vivian Wu (ORCID: https://orcid.org/0000-0002-8506-7305)
- Erin O'Neil
- Elizabeth O. Shagena
Institutions
- Children's Hospital of Philadelphia (US)
- Penn Presbyterian Medical Center (US)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- University of Pennsylvania (US)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2024-12-18
- DOI
- https://doi.org/10.1167/iovs.65.14.30
- Citations
- 6
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.40
Funders
- Research to Prevent Blindness
- National Institutes of Health