Evolution of vitelliform maculopathy in a pediatric patient with a homozygous RP1L1 variant
Pathogenic variants in <i>RP1L1</i> can cause early onset vitelliform macular dystrophy, which does not necessarily represent the evolution of a pre-existing OMD and can exhibit a fluctuating course.
Authors
- Alessia Amato (ORCID: https://orcid.org/0000-0002-9515-7363)
- Paul Yang
Institutions
- Oregon Health & Science University (US)
- Bambino Gesù Children's Hospital (IT)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2025-03-31
- DOI
- https://doi.org/10.1016/j.ajoc.2025.102305
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00