Revealing a Heterozygous FCGR1A Variant in a Patient with Uveal Melanoma and Von Hippel–Lindau Syndrome: A Rare Case Report
Our examination indicated that <i>FCGR1A</i>: c.274C>T (p.Arg92*) may have contributed to the co-occurrence of UM and VHL disease. In the future, <i>FCGR1A</i> could be a promising therapeutic approach for retinal cancer due to its role in several cancers and retinal degeneration. To gain a better understanding of its pathogenesis mechanism, it is recommended to conduct functional analysis using appropriate animal models before using the variant in genetic counseling.
Authors
- Reza Mirshahi (ORCID: https://orcid.org/0000-0002-5997-6417)
- Ahad Sedaghat (ORCID: https://orcid.org/0000-0002-4701-1933)
- Golnaz Khakpour
- Masood Naseripour (ORCID: https://orcid.org/0000-0003-1217-3470)
- Fatemeh Azimi (ORCID: https://orcid.org/0000-0001-9995-0142)
- Fatemeh Mostafaiee
Institutions
- Iran University of Medical Sciences (IR)
Publication Details
- Journal
- Journal of Current Ophthalmology
- Published
- 2024-10-01
- DOI
- https://doi.org/10.4103/joco.joco_145_24
- Primary Topic
- Ocular Oncology and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00