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.

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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
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article

Revealing a Heterozygous FCGR1A Variant in a Patient with Uveal Melanoma and Von Hippel–Lindau Syndrome: A Rare Case Report

Reza Mirshahi, Ahad Sedaghat, Golnaz Khakpour, Masood Naseripour et al.
Journal of Current Ophthalmology
Ocular Oncology and Treatments
article

Revealing a Heterozygous FCGR1A Variant in a Patient with Uveal Melanoma and Von Hippel–Lindau Syndrome: A Rare Case Report

Reza Mirshahi, Ahad Sedaghat, Golnaz Khakpour, Masood Naseripour, Fatemeh Azimi, Fatemeh Mostafaiee
article en

Abstract

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.

Journal of Current OphthalmologyVol. 36(4)
Iran University of Medical Sciences (IR)
Openalex Percentile: Top 58%
Ocular Oncology and Treatments
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