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Open Access 01-12-2020 | Hereditary Hemorrhagic Telangiectasia | Research

Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

Authors: Inés Gómez-Acebo, Sara Rodríguez Prado, Ángel De La Mora, Roberto Zarrabeitia Puente, Beatriz de la Roza Varela, Trinidad Dierssen-Sotos, Javier Llorca

Published in: Orphanet Journal of Rare Diseases | Issue 1/2020

Abstract

Background

The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.

Methods

A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierrallana, a reference centre for Spanish patients with HHT. Odds ratios for several symptoms or characteristics of HHT and ocular lesions were estimated using logistic regression adjusting for age and sex.

Results

The ocular involvement was associated with being a carrier of a mutation for the ENG gene, that is, suffering from a type 1 HHT involvement (OR = 2.09; 95% CI [1.17–3.72]). p = 0.012). In contrast, patients with ocular lesions have less frequently mutated ACVRL1/ALK1 gene (OR = 0.52; 95% CI [0.30–3.88], p = 0.022).

Conclusions

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.

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Title: Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics
Authors: Inés Gómez-Acebo
Sara Rodríguez Prado
Ángel De La Mora
Roberto Zarrabeitia Puente
Beatriz de la Roza Varela
Trinidad Dierssen-Sotos
Javier Llorca
Publication date: 01-12-2020
Publisher: BioMed Central
Keyword: Hereditary Hemorrhagic Telangiectasia
Published in: Orphanet Journal of Rare Diseases / Issue 1/2020
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-020-01433-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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