Ocular vascular changes in relatives at high genetic risk for developing Alzheimer’s disease: foveal avascular zone and choroidal thickness

A family history (FH+) of Alzheimer’s disease (AD) and ɛ4 allele of the ApoE gene are the main genetic risk factors for developing AD, whereas ɛ4 allele plays a protective role in age-related macular degeneration. Ocular vascular changes have been reported in both pathologies. We analyzed the choroidal thickness using optical coherence tomography (OCT) and the foveal avascular zone (FAZ) using OCT-angiography and compared the results with ApoE gene expression, AD FH+, and the presence or absence of hard drusen (HD) in 184 cognitively healthy subjects. Choroidal thickness was statistically significantly different in the (FH−, ɛ4−, HD+) group compared with (i) both the (FH−, ɛ4−, HD−) and the (FH+, ɛ4+, HD+) groups in the superior and inferior points at 1500 μm, and (ii) the (FH+, ɛ4−, HD+) group in the superior point at 1500 μm. There were statistically significant differences in the superficial FAZ between the (FH+, ɛ4−, HD+) group and (i) the (FH+, ɛ4−, HD−) group and (ii) the (FH+, ɛ4+, HD−) group. In conclusion, ocular vascular changes are not yet evident in participants with a genetic risk of developing AD.

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Ocular Vascular Changes in Mild Alzheimer’s Disease Patients: Foveal Avascular Zone, Choroidal Thickness, and ONH Hemoglobin Analysis

Journal of Personalized Medicine ◽

10.3390/jpm10040231 ◽

2020 ◽

Vol 10 (4) ◽

pp. 231

Author(s):

Elena Salobrar-Garcia ◽

Carmen Méndez-Hernández ◽

Rosa de Hoz ◽

Ana I. Ramírez ◽

Inés López-Cuenca ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Choroidal Thickness ◽

Foveal Avascular Zone ◽

Vascular Density ◽

Vascular Changes ◽

Smooth Musculature ◽

Avascular Zone ◽

Early Biomarker ◽

The Brain

In Alzheimer’s disease (AD), vascular changes could be caused by amyloid beta (Aβ) aggregates replacing the contractile smooth musculature of the arteriole walls. These changes happen in the brain vascular network, but also in the eye, and are related to decreased vascular density and low blood flow. In patients with Alzheimer’s disease, thinning of the choroid and the retina has been shown. The aim of this prospective study was to assess the retinal and choroidal vascular systems, analyzing the choroidal thickness with optical coherence tomography (OCT), the foveal avascular zone (FAZ) with OCT-angiography (OCTA), and the optic nerve head (ONH) hemoglobin with the Laguna ONhE program, to evaluate which of the two ocular vascular systems shows earlier changes in mild AD patients. These patients, compared to controls, showed a significantly thinner choroid at all the analyzed points, with the exception of the temporal macula (at 1000 and 1500 µm from the fovea). On the other hand, the FAZ and ONH hemoglobin did not show significant differences. In conclusion, a thinner choroid was the main ocular vascular change observed in mild AD patients, while the retinal vessels were not yet affected. Therefore, choroidal thickness could be used an early biomarker in AD.

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Do synaptic changes occur before old age in people at high genetic risk of Alzheimer's disease?

The Lancet ◽

10.1016/s0140-6736(16)00479-7 ◽

2016 ◽

Vol 387 ◽

pp. S92

Author(s):

Lindsey Sinclair ◽

Seth Love

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Old Age ◽

Genetic Risk ◽

High Genetic Risk ◽

Synaptic Changes

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Visual acuity and contrast sensitivity are slightly modified in young subjects at high genetic risk of developing Alzheimer’s disease

Acta Ophthalmologica ◽

10.1111/j.1755-3768.2020.0124 ◽

2021 ◽

Vol 99 (S265) ◽

Author(s):

Inés López‐Cuenca ◽

Lorena Elvira‐Hurtado ◽

Elena Salobrar‐Garcia ◽

José A. Fernández‐Albarral ◽

María Pilar Rojas Lozano ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Visual Acuity ◽

Contrast Sensitivity ◽

Genetic Risk ◽

High Genetic Risk ◽

Young Subjects

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Ocular Vascular Changes: Choroidal Thickness as an Early Biomarker for Alzheimer’s Disease?

Journal of Personalized Medicine ◽

10.3390/jpm11121365 ◽

2021 ◽

Vol 11 (12) ◽

pp. 1365

Author(s):

Chiara Villa

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Choroidal Thickness ◽

The Elderly ◽

Vascular Changes ◽

Age Related ◽

Early Biomarker ◽

Progressive Disorder

Alzheimer’s disease (AD) is an age-related neurodegenerative and progressive disorder representing the most common form of dementia among the elderly [...]

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Assessment of macular thickness changes by OCT in asymptomatic subjects at high genetic risk of developing Alzheimer’s disease

Acta Ophthalmologica ◽

10.1111/aos.0121 ◽

2021 ◽

Vol 99 (S265) ◽

Author(s):

Inés López‐Cuenca ◽

Lorena Elvira‐Hurtado ◽

José A. Fernández‐Albarral ◽

Elena Salobrar‐Garcia ◽

María Pilar Rojas Lozano ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Genetic Risk ◽

Macular Thickness ◽

High Genetic Risk ◽

Asymptomatic Subjects

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Macular Thickness Decrease in Asymptomatic Subjects at High Genetic Risk of Developing Alzheimer’s Disease: An OCT Study

Journal of Clinical Medicine ◽

10.3390/jcm9061728 ◽

2020 ◽

Vol 9 (6) ◽

pp. 1728

Author(s):

Inés López-Cuenca ◽

Rosa de Hoz ◽

Elena Salobrar-García ◽

Lorena Elvira-Hurtado ◽

Pilar Rojas ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Family History ◽

Genetic Risk ◽

Clinical Symptoms ◽

Plexiform Layer ◽

Inner Plexiform Layer ◽

Fiber Layer ◽

High Genetic Risk ◽

History Of

In this case control study, we examined the retinal thickness of the different layers in the macular region and peripapillary retinal nerve fiber layer (RNFL) with optical coherence tomography (OCT) in healthy cognitive subjects (from 51 to 74 years old) at high genetic risk for developing Alzheimer’s disease (AD). Thirty-five subjects with a family history of Alzheimer disease (AD) (FH+) and ApoE ɛ4 carriers and 29 age-matched control subjects without a family history of AD (FH−) and ApoE ɛ4 non-carriers were included. Compared to FH− ApoE ɛ4 non-carriers, in FH+ ApoE ɛ4 carriers, there were statistically significant decreases (p < 0.05) in (i) the foveal area of mRNFL; (ii) the inferior and nasal sectors in the outer and inner macular ring in the inner plexiform layer (IPL); (iii) the foveal area and the inferior sector in the outer macular ring in the inner nuclear layer (INL); and (iv) the inferior sector of the outer macular ring in the outer plexiform layer (OPL). However, no statistically significant differences were found in the peripapillary thickness of RNFL between both study groups. In subjects with cognitive health and high genetic risk for the development of AD, initial changes appeared in the macular area. OCT could be a promising, cost-effective and non-invasive test useful in early AD, before the onset of clinical symptoms.

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Genetic studies in Alzheimer's disease

Dialogues in Clinical Neuroscience ◽

10.31887/dcns.2003.5.1/yptang ◽

2003 ◽

Vol 5 (1) ◽

pp. 17-226 ◽

Cited By ~ 2

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Risk Factor ◽

Genetic Risk ◽

Late Onset ◽

Association Studies ◽

Genetic Associations ◽

Coding Region ◽

Genetic Studies ◽

High Genetic Risk

Alzheimer's disease (AD), the most common cause of dementia in aged populations, is believed to be caused by both environmental factors and genetic variations. Extensive linkage and association studies have established that a broad range of loci are associated with AD, including both causative and susceptibility (risk factor) genes. So far, at least three genes, APP, PS1, and PS2, have been identified as causative genes. Mutations in these genes have been found to cause mainly early-onset AD. On the other hand, APOE has been identified to be the most common high genetic risk factor for late-onset AD. Polymorphisms in the coding region, intron, and promoter region of certain genes constitute another kind of genetic variation associated with AD. A number of other genes or loci have been reported to have linkage with AD, but many show only a weak linkage or the results are not well reproduced. Currently, the measurable genetic associations account for about 50% of the population risk for AD. It is believed that more new loci will be found to associate with AD, either as causative genes or genetic risk factors, and that eventually the understanding of genetic factors in the pathogenesis of AD will be important for our efforts to cure this illness.

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Case Studies in Dementia-Related Anxiety

GeroPsych ◽

10.1024/1662-9647/a000243 ◽

2020 ◽

pp. 1-6

Author(s):

Molly Maxfield ◽

Jennifer R. Roberts ◽

JoAnna Dieker

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Social Withdrawal ◽

Cognitive Status ◽

Generalized Anxiety ◽

Neurocognitive Disorder ◽

High Genetic Risk ◽

Disease Case ◽

Negative Perceptions

Abstract. Two clients seeking neuropsychological assessment reported anxiety about their cognitive status. We review the cases to increase our understanding of factors contributing to dementia-related anxiety. Case 1 met the criteria for mild neurocognitive disorder; the client’s memory was impaired, and she had a high genetic risk for Alzheimer’s disease. The client reported anxiety about negative perceptions of quality of life among individuals diagnosed with Alzheimer’s disease. Case 2 did not meet the criteria for a neurocognitive disorder. Anxiety about this client’s cognitive status appeared attributable to generalized anxiety disorder, given his anxiety about diverse topics. Both clients reported embarrassment about forgetfulness and social withdrawal. Dementia-related anxiety is believed to be relatively common, to exist on a continuum, to have unique social implications, and to stem from various sources, necessitating differing interventions.

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