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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Published inJournal of personalized medicine Vol. 12; no. 5; p. 847
Main Authors López-Cuenca, Inés, Salobrar-García, Elena, Gil-Salgado, Inés, Sánchez-Puebla, Lidia, Elvira-Hurtado, Lorena, Fernández-Albarral, José A., Ramírez-Toraño, Federico, Barabash, Ana, de Frutos-Lucas, Jaisalmer, Salazar, Juan J., Ramírez, José M., Ramírez, Ana I., de Hoz, Rosa
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 23.05.2022
MDPI
Subjects
Age
Alzheimer's disease
Apolipoprotein E
Cardiovascular diseases
Classification
Diabetes
Diabetes mellitus
Diabetic retinopathy
Eye surgery
Glaucoma
Health risk assessment
Hypercholesterolemia
Hypertension
Isoforms
Macular degeneration
Neurodegeneration
Neurodegenerative diseases
Pathology
Perfusion
Precision medicine
Retina
Risk factors
Senile plaques
Thinning
Visual impairment
choroid
OCT
Alzheimer’s disease
ApoE ɛ4
retina
family history
AMD
diabetes mellitus
hypertension
hard drusen
hypercholesterolemia
Online AccessGet full text
ISSN2075-4426
2075-4426
DOI10.3390/jpm12050847

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Abstract 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.
AbstractList 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.
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.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.
Author Gil-Salgado, Inés
Elvira-Hurtado, Lorena
Salobrar-García, Elena
Sánchez-Puebla, Lidia
de Frutos-Lucas, Jaisalmer
López-Cuenca, Inés
Fernández-Albarral, José A.
de Hoz, Rosa
Ramírez, José M.
Barabash, Ana
Ramírez-Toraño, Federico
Ramírez, Ana I.
Salazar, Juan J.
AuthorAffiliation 2 Department of Immunology, Ophthalmology and ENT, Faculty of Optics and Optometry, Complutense University of Madrid, 28037 Madrid, Spain
1 Ramon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, Spain; inelopez@ucm.es (I.L.-C.); elenasalobrar@med.ucm.es (E.S.-G.); inegil01@ucm.es (I.G.-S.); lidsan02@ucm.es (L.S.-P.); marelvir@ucm.es (L.E.-H.); joseaf08@ucm.es (J.A.F.-A.); jjsalazar@med.ucm.es (J.J.S.); ramirezs@med.ucm.es (J.M.R.); airamirez@med.ucm.es (A.I.R.)
6 Diabetes and Associated Metabolic Diseases Networking Biomedical Research Centre, Carlos III Health Institute, 28029 Madrid, Spain
3 Laboratory of Cognitive and Computational Neuroscience, Center for Biomedical Technology, Technical University of Madrid, 28233 Madrid, Spain; federami@ucm.es (F.R.-T.); jaisamer.defrutos@ctb.upm.es (J.d.F.-L.)
5 Department of Endocrinology and Nutrition, IdISSC, 2
AuthorAffiliation_xml – name: 1 Ramon Castroviejo Institute of Ophthalmologic Research, Group UCM 920105, Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Complutense University of Madrid, 28040 Madrid, Spain; inelopez@ucm.es (I.L.-C.); elenasalobrar@med.ucm.es (E.S.-G.); inegil01@ucm.es (I.G.-S.); lidsan02@ucm.es (L.S.-P.); marelvir@ucm.es (L.E.-H.); joseaf08@ucm.es (J.A.F.-A.); jjsalazar@med.ucm.es (J.J.S.); ramirezs@med.ucm.es (J.M.R.); airamirez@med.ucm.es (A.I.R.)
– name: 9 Department of Psychology, Faculty of Life and Nature Sciences, Antonio de Nebrija University, 28015 Madrid, Spain
– name: 4 Department of Experimental Psychology, Universidad Complutense de Madrid, 28223 Madrid, Spain
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Issue 5
Keywords choroid
OCT
Alzheimer’s disease
ApoE ɛ4
retina
family history
AMD
diabetes mellitus
hypertension
hard drusen
hypercholesterolemia
Language English
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These authors contributed equally to this work.
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Snippet 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...
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...
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SubjectTerms Age
Alzheimer's disease
Apolipoprotein E
Cardiovascular diseases
Classification
Diabetes
Diabetes mellitus
Diabetic retinopathy
Eye surgery
Glaucoma
Health risk assessment
Hypercholesterolemia
Hypertension
Isoforms
Macular degeneration
Neurodegeneration
Neurodegenerative diseases
Pathology
Perfusion
Precision medicine
Retina
Risk factors
Senile plaques
Thinning
Visual impairment
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Title Characterization of Retinal Drusen in Subjects at High Genetic Risk of Developing Sporadic Alzheimer’s Disease: An Exploratory Analysis
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Volume 12
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