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46/100

✓ Peer-reviewed alzhub usefulness score 46 out of 100. Risk genes beyond APOE

Topic: Amyloid, tau and blood-test diagnosis

Results This study included 10 carriers of the PSEN1 E280A mutation who were cognitively unimpaired (7 women [70%]; mean [SD] age, 36.3 [8.1] years) and 10 healthy noncarrier family members (7 women [70%]; mean [SD] age, 36.4 [8.2] years). Compared with noncarrier controls, PSEN1 mutation carriers who were cognitively unimpaired had a generalized decrease in thickness of the whole retina as well as individual layers detected on OCT scans, with the inner nuclear layer (outer superior quadrant, β = -3.06; P = .007; outer inferior quadrant, β = -2.60; P = .02), outer plexiform layer (outer superior quadrant, β = -3.44; P = .03), and outer nuclear layer (central quadrant, β = -8.61; P = .03; inner nasal quadrant, β = -8.39; P = .04; inner temporal quadrant, β = -9.39; P = .02) showing the greatest amount of statistically significant thinning. Age was a significant effect modifier for the association between PSEN1 mutation and amyloid β levels in cortical regions (β = 0.03; P = .001) but not for the association between PSEN1 mutation and retinal thickness. Conclusions and relevance These findings suggest that OCT can detect functional and morphologic changes in the retina of carriers of familial Alzheimer disease who are cognitively unimpaired several years before clinical onset, suggesting that OCT findings and retinal vascular parameters may be biomarkers prior to the onset of cognitive decline.

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APA 7th

Armstrong, G. W., Kim, L. A., Vingopoulos, F., Park, J. Y., Garg, I., Kasetty, M., et al. (2021). Retinal Imaging Findings in Carriers With PSEN1-Associated Early-Onset Familial Alzheimer Disease Before Onset of Cognitive Symptoms. JAMA ophthalmology. https://doi.org/10.1001/jamaophthalmol.2020.4909

Vancouver

Armstrong GW, Kim LA, Vingopoulos F, Park JY, Garg I, Kasetty M, et al. Retinal Imaging Findings in Carriers With PSEN1-Associated Early-Onset Familial Alzheimer Disease Before Onset of Cognitive Symptoms. JAMA ophthalmology. 2021. doi:10.1001/jamaophthalmol.2020.4909. PMID: 33180114.

BibTeX

@article{armstrong2021-33180114,
  author  = {Armstrong, G. W. and Kim, L. A. and Vingopoulos, F. and Park, J. Y. and Garg, I. and Kasetty, M. and Silverman, R. F. and Zeng, R. and others},
  title   = {{Retinal Imaging Findings in Carriers With PSEN1-Associated Early-Onset Familial Alzheimer Disease Before Onset of Cognitive Symptoms}},
  journal = {JAMA ophthalmology},
  year    = {2021},
  doi     = {10.1001/jamaophthalmol.2020.4909},
  pmid    = {33180114},
  url     = {https://doi.org/10.1001/jamaophthalmol.2020.4909}
}

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Key findings

Results This study included 10 carriers of the PSEN1 E280A mutation who were cognitively unimpaired (7 women [70%]; mean [SD] age, 36.3 [8.1] years) and 10 healthy noncarrier family members (7 women [70%]; mean [SD] age, 36.4 [8.2] years).
Compared with noncarrier controls, PSEN1 mutation carriers who were cognitively unimpaired had a generalized decrease in thickness of the whole retina as well as individual layers detected on OCT scans, with the inner nuclear layer (outer superior quadrant, β = -3.06; P = .007; outer inferior quadrant, β = -2.60; P = .02), outer plexiform layer (outer superior quadrant, β = -3.44; P = .03), and outer nuclear layer (central quadrant, β = -8.61; P = .03; inner nasal quadrant, β = -8.39; P = .04; inner temporal quadrant, β = -9.39; P = .02) showing the greatest amount of statistically significant thinning.
Age was a significant effect modifier for the association between PSEN1 mutation and amyloid β levels in cortical regions (β = 0.03; P = .001) but not for the association between PSEN1 mutation and retinal thickness.
Conclusions and relevance These findings suggest that OCT can detect functional and morphologic changes in the retina of carriers of familial Alzheimer disease who are cognitively unimpaired several years before clinical onset, suggesting that OCT findings and retinal vascular parameters may be biomarkers prior to the onset of cognitive decline.

Why it matters

Comparing 10 cognitively unimpaired carriers of the PSEN1 E280A mutation, which causes early-onset familial Alzheimer's, with 10 noncarrier relatives, retinal scans (OCT) showed thinning of the whole retina and several of its layers in carriers. The authors suggest OCT can detect retinal changes several years before symptoms begin, so retinal measures may serve as biomarkers before cognitive decline.

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Study details

Study designcross-sectional
Evidence strengthLow

How this study scored 46/100

Published in a peer-reviewed journal, and it is a snapshot of people at one point in time. Scored zero for sample size, effect reported and randomised / blinded because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (JAMA ophthalmology)
Journal's citation record	1 / 4	JAMA Ophthalmology: journal h-index 143 (OpenAlex, 2026-10-29)
Study design	4 / 12	A snapshot of people at one point in time
Strength of evidence	1 / 5	Rated “low” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	3 / 5	2021 — within 6 year(s) of the newest study here
Sample size	0 / 4	Participant count not stated — scores zero (not stated in the record — scored 0)
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	3 / 3	Studied in people (pubmed indexes it as a clinical or observational study)
Randomised / blinded	0 / 2	No randomisation or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	3 / 7	Cited 17 times (OpenAlex, 2026-10-10)
Citations per year	1 / 5	2.4 citations a year over 7 year(s) since 2021
Impact for its field and year	2 / 6	Cited 1.8× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	1 / 6	Cited by 1 other studies in this library
Still being cited	1 / 4	Cited 6 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	2 / 4	Last-listed author John B. Miller: h-index 42 (OpenAlex, whole career)
Institution's track record	3 / 3	Harvard University: institution h-index 3,235 (OpenAlex)
Multi-centre collaboration	2 / 3	OpenAlex lists 6 institution(s) in 2 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 33180114)
Free to read	0 / 2	Behind a paywall — scores zero
Total	46 / 100	—

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