Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics.
Inés Gómez-AceboSara Rodríguez PradoÁngel De La MoraRoberto Zarrabeitia PuenteBeatriz de la Roza VarelaTrinidad Dierssen-SotosJavier LlorcaPublished in: Orphanet journal of rare diseases (2020)
In conclusion, half of the patients with HHT in our study have ocular involvement. These eye lesions are associated with mutations in the ENG gene and ACVRL1/ALK1 gene. Thus, the ENG gene increases the risk of ocular lesions, while being a carrier of the mutated ACVRL1/ALK1 gene decreases said risk.