Characterization of Retinal Drusen in Subjects at High Genetic Risk of Developing Sporadic Alzheimer’s Disease: An Exploratory Analysis
Having a family history (FH+) of Alzheimer’s disease (AD) and being a carrier of at least one ɛ4 allele of the ApoE gene are two of the main risk factors for the development of AD. AD and age-related macular degeneration (AMD) share one of the main risk factors, such as age, and characteristics incl...
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| Format: | Article |
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MDPI AG
2022-05-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/12/5/847 |
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| author | Inés López-Cuenca Elena Salobrar-García Inés Gil-Salgado Lidia Sánchez-Puebla Lorena Elvira-Hurtado José A. Fernández-Albarral Federico Ramírez-Toraño Ana Barabash Jaisalmer de Frutos-Lucas Juan J. Salazar José M. Ramírez Ana I. Ramírez Rosa de Hoz |
| author_facet | Inés López-Cuenca Elena Salobrar-García Inés Gil-Salgado Lidia Sánchez-Puebla Lorena Elvira-Hurtado José A. Fernández-Albarral Federico Ramírez-Toraño Ana Barabash Jaisalmer de Frutos-Lucas Juan J. Salazar José M. Ramírez Ana I. Ramírez Rosa de Hoz |
| author_sort | Inés López-Cuenca |
| collection | DOAJ |
| description | Having a family history (FH+) of Alzheimer’s disease (AD) and being a carrier of at least one ɛ4 allele of the ApoE gene are two of the main risk factors for the development of AD. AD and age-related macular degeneration (AMD) share one of the main risk factors, such as age, and characteristics including the presence of deposits (Aβ plaques in AD and drusen in AMD); however, the role of apolipoprotein E isoforms in both pathologies is controversial. We analyzed and characterized retinal drusen by optical coherence tomography (OCT) in subjects, classifying them by their AD FH (FH- or FH+) and their allelic characterization of ApoE ɛ4 (ApoE ɛ4- or ApoE ɛ4+) and considering cardiovascular risk factors (hypercholesterolemia, hypertension, and diabetes mellitus). In addition, we analyzed the choroidal thickness by OCT and the area of the foveal avascular zone with OCTA. We did not find a relationship between a family history of AD or any of the ApoE isoforms and the presence or absence of drusen. Subjects with drusen show choroidal thinning compared to patients without drusen, and thinning could trigger changes in choroidal perfusion that may give rise to the deposits that generate drusen. |
| first_indexed | 2024-03-10T03:35:31Z |
| format | Article |
| id | doaj.art-39db710caf904bc1923c798eb7dc3897 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-10T03:35:31Z |
| publishDate | 2022-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-39db710caf904bc1923c798eb7dc38972023-11-23T11:45:47ZengMDPI AGJournal of Personalized Medicine2075-44262022-05-0112584710.3390/jpm12050847Characterization of Retinal Drusen in Subjects at High Genetic Risk of Developing Sporadic Alzheimer’s Disease: An Exploratory AnalysisInés López-Cuenca0Elena Salobrar-García1Inés Gil-Salgado2Lidia Sánchez-Puebla3Lorena Elvira-Hurtado4José A. Fernández-Albarral5Federico Ramírez-Toraño6Ana Barabash7Jaisalmer de Frutos-Lucas8Juan J. Salazar9José M. Ramírez10Ana I. Ramírez11Rosa de Hoz12Ramon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainRamon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainRamon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainRamon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainRamon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainRamon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainLaboratory of Cognitive and Computational Neuroscience, Center for Biomedical Technology, Technical University of Madrid, 28233 Madrid, SpainDepartment of Endocrinology and Nutrition, IdISSC, 28040 Madrid, SpainLaboratory of Cognitive and Computational Neuroscience, Center for Biomedical Technology, Technical University of Madrid, 28233 Madrid, SpainRamon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainRamon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainRamon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainRamon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, SpainHaving a family history (FH+) of Alzheimer’s disease (AD) and being a carrier of at least one ɛ4 allele of the ApoE gene are two of the main risk factors for the development of AD. AD and age-related macular degeneration (AMD) share one of the main risk factors, such as age, and characteristics including the presence of deposits (Aβ plaques in AD and drusen in AMD); however, the role of apolipoprotein E isoforms in both pathologies is controversial. We analyzed and characterized retinal drusen by optical coherence tomography (OCT) in subjects, classifying them by their AD FH (FH- or FH+) and their allelic characterization of ApoE ɛ4 (ApoE ɛ4- or ApoE ɛ4+) and considering cardiovascular risk factors (hypercholesterolemia, hypertension, and diabetes mellitus). In addition, we analyzed the choroidal thickness by OCT and the area of the foveal avascular zone with OCTA. We did not find a relationship between a family history of AD or any of the ApoE isoforms and the presence or absence of drusen. Subjects with drusen show choroidal thinning compared to patients without drusen, and thinning could trigger changes in choroidal perfusion that may give rise to the deposits that generate drusen.https://www.mdpi.com/2075-4426/12/5/847Alzheimer’s diseaseApoE ɛ4family historyhard drusenOCTretina |
| spellingShingle | Inés López-Cuenca Elena Salobrar-García Inés Gil-Salgado Lidia Sánchez-Puebla Lorena Elvira-Hurtado José A. Fernández-Albarral Federico Ramírez-Toraño Ana Barabash Jaisalmer de Frutos-Lucas Juan J. Salazar José M. Ramírez Ana I. Ramírez Rosa de Hoz Characterization of Retinal Drusen in Subjects at High Genetic Risk of Developing Sporadic Alzheimer’s Disease: An Exploratory Analysis Journal of Personalized Medicine Alzheimer’s disease ApoE ɛ4 family history hard drusen OCT retina |
| title | Characterization of Retinal Drusen in Subjects at High Genetic Risk of Developing Sporadic Alzheimer’s Disease: An Exploratory Analysis |
| title_full | Characterization of Retinal Drusen in Subjects at High Genetic Risk of Developing Sporadic Alzheimer’s Disease: An Exploratory Analysis |
| title_fullStr | Characterization of Retinal Drusen in Subjects at High Genetic Risk of Developing Sporadic Alzheimer’s Disease: An Exploratory Analysis |
| title_full_unstemmed | Characterization of Retinal Drusen in Subjects at High Genetic Risk of Developing Sporadic Alzheimer’s Disease: An Exploratory Analysis |
| title_short | Characterization of Retinal Drusen in Subjects at High Genetic Risk of Developing Sporadic Alzheimer’s Disease: An Exploratory Analysis |
| title_sort | characterization of retinal drusen in subjects at high genetic risk of developing sporadic alzheimer s disease an exploratory analysis |
| topic | Alzheimer’s disease ApoE ɛ4 family history hard drusen OCT retina |
| url | https://www.mdpi.com/2075-4426/12/5/847 |
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