Unveiling a TGFBI Variant in the Retinal Capillary Hemangioblastoma, Type II Granular Corneal Dystrophy, and Von Hippel–Lindau Families: Unlocking Potential for Early Intervention and Targeted Therapy
Journal of Current Ophthalmology2024Vol. 36(2), pp. 205–209
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Fatemeh Azimi, Golnaz Khakpour, Ahad Sedaghat, Fatemeh Mostafaiee, Hengameh Kasraei, Masood Naseripour
Abstract
For the first time, our research identified the potential involvement of TGFBI: c.371G>A (p.R124H) in an Iranian family with RCH, GCDII, and other symptoms of VHL disease. In the future, TGFBI could offer a new understanding and a promising therapeutic approach for both GCDII and VHL diseases simultaneously. Before using the variant in genetic counseling, it is recommended to conduct functional analysis using appropriate animal models to understand its pathogenesis mechanism.
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