Bibliographic Details
| 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 |
| Source: |
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020) |
| Publisher Information: |
BMC, 2020. |
| Publication Year: |
2020 |
| Collection: |
LCC:Medicine |
| Subject Terms: |
Hereditary hemorrhagic telangiectasia, HHT, Osler-weber-Rendu, ENG, ACVRL1/ALK1, Medicine |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1750-1172 |
| Relation: |
http://link.springer.com/article/10.1186/s13023-020-01433-5; https://doaj.org/toc/1750-1172 |
| DOI: |
10.1186/s13023-020-01433-5 |
| Access URL: |
https://doaj.org/article/c84b3c7fde0541c492ea8fa1dbb3e823 |
| Accession Number: |
edsdoj.84b3c7fde0541c492ea8fa1dbb3e823 |
| Database: |
Directory of Open Access Journals |
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