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Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics
Ines Gómez-Acebo
Universidad de Cantabria. Facultad de Medicina
Corresponding Author
ORCiD: https://orcid.org/0000-0001-8793-8314
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at Orphanet Journal of Rare Diseases.
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.
Keywords
hereditary hemorrhagic telangiectasia, HHT, Osler‐Weber‐Rendu, ENG, ACVRL1/ALK1
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CURRENT STATUS: Published
Version 2
Posted 14 May, 2020
Published
On 29 Jun, 2020
No community comments so far
Editorial decision: Accept
On 03 Jun, 2020
Review #1 received
Received 20 May, 2020
Reviewer #2 agreed
On 20 May, 2020
Review #2 received
Received 20 May, 2020
Reviewer #1 agreed
On 18 May, 2020
Reviewers invited
Invitations sent on 15 May, 2020
Editor assigned
On 01 May, 2020
Submission checks complete
On 30 Apr, 2020
Editor invited
On 30 Apr, 2020
No comments provided
Review #2 received
Received 23 Apr, 2020
Editorial decision: Minor revision
On 23 Apr, 2020
Review #1 received
Received 08 Apr, 2020
Reviewer #2 agreed
On 08 Apr, 2020
Reviewers invited
Invitations sent on 07 Apr, 2020
Reviewer #1 agreed
On 07 Apr, 2020
Editor assigned
On 04 Mar, 2020
Submission checks complete
On 03 Mar, 2020
Editor invited
On 03 Mar, 2020
First submitted
On 02 Mar, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
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This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics
Ines Gómez-Acebo
Universidad de Cantabria. Facultad de Medicina
Corresponding Author
ORCiD: https://orcid.org/0000-0001-8793-8314
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
Version 2
Posted 14 May, 2020
Published
On 29 Jun, 2020
No community comments so far
Editorial decision: Accept
On 03 Jun, 2020
Review #1 received
Received 20 May, 2020
Reviewer #2 agreed
On 20 May, 2020
Review #2 received
Received 20 May, 2020
Reviewer #1 agreed
On 18 May, 2020
Reviewers invited
Invitations sent on 15 May, 2020
Editor assigned
On 01 May, 2020
Submission checks complete
On 30 Apr, 2020
Editor invited
On 30 Apr, 2020
No comments provided
Review #2 received
Received 23 Apr, 2020
Editorial decision: Minor revision
On 23 Apr, 2020
Review #1 received
Received 08 Apr, 2020
Reviewer #2 agreed
On 08 Apr, 2020
Reviewers invited
Invitations sent on 07 Apr, 2020
Reviewer #1 agreed
On 07 Apr, 2020
Editor assigned
On 04 Mar, 2020
Submission checks complete
On 03 Mar, 2020
Editor invited
On 03 Mar, 2020
First submitted
On 02 Mar, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at Orphanet Journal of Rare Diseases.
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.
Figure 1