Work

Evolution of vitelliform maculopathy in a pediatric patient with a homozygous RP1L1 variant

Year: 2025

Type: article

Abstract: Background: maculopathy have been previously reported; however, the patients were adults, and the disease course over time was not documented. Purpose: variant and describe the evolution of his findings over a five-year follow-up. Methods: Case report. Results: gene. Conclusions: 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.

Source: American Journal of Ophthalmology Case Reports

DOI: 10.1016/j.ajoc.2025.102305

Authors: Alessia Amato, Paul Yang

Institutions: Bambino Gesù Children's Hospital, Oregon Health & Science University

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,590