Evidence map›Paper›PMID 37043002›Full record

ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2023

Anterior segment phenotypic changes in late-onset retinal degeneration with Ser163Arg mutation in CTRP5/C1QTNF5.

Leonardo Lando, Anne Xuan-Lan Nguyen, Randa Tsz Ha Li, Roly Megaw, Baljean Dhillon, Shyamanga Borooah

Abstract read
In one paragraph

Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 5 institutions in 3 countries.

Leonardo LandoShiley Eye Institute, University of California San Diego, La Jolla, CA, 92093, USA.
Anne Xuan-Lan NguyenFaculty of Medicine, McGill University, Montreal, Canada.
Randa Tsz Ha LiCentre for Clinical Brain Sciences, School of Clinical Sciences, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, Scotland, UK.
Roly MegawPrincess Alexandra Eye Pavilion, NHS Lothian, Edinburgh, Scotland, UK.
Baljean DhillonCentre for Clinical Brain Sciences, School of Clinical Sciences, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, Scotland, UK.
Shyamanga BorooahShiley Eye Institute, University of California San Diego, La Jolla, CA, 92093, USA. sborooah@health.ucsd.edu.
Princess Alexandra Eye Pavilion · GBInstitute of Genetics and Cancer · GBMcGill University · CASmith-Kettlewell Eye Research Institute · USUniversity of Toronto · CA

Funding

Vision BiostatisticsP30EY022589 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Derek Stuart Welsbie · 2012 to 2026
$10.3M
NEI NIH HHS P30 EY022589Wellcome TrustWellcome Trust 219607/Z/19/Z
6 · The paper itself

Abstract

purposeLate-onset retinal degeneration (L-ORD) is a rare retinal dystrophy with anterior segment (AS) abnormalities, including long anterior zonules (LAZ) and iris atrophy. This investigation evaluates AS changes in a L-ORD cohort.

methodsProspective, longitudinal study including L-ORD individuals (Ser163Arg) with ocular exam and standard slit-lamp photographs between 2011 and 2022. AS images were merged and assessed for LAZ number and zonule-free zone (ZFZ) radius. Further clinical findings such as iris atrophy patterns were reported descriptively.

resultsTwelve eyes of 6 patients (4 males, median age = 60.5 years) were included, showing a median of 160 (11-372) LAZs, mainly localized superiorly (39%) and inferiorly (24%). There was a high inter-ocular correlation (rs = 0.94, p < 0.01), no difference in LAZ count between eyes (p = 0.82), and an inverse relationship between LAZ and age (r =  - 0.82; p < 0.05). The ZFZ had median 2.1 mm (1.3-5.4), with no inter-ocular difference (p = 0.31). Iris transillumination defects occurred in 11/12 eyes, with 4 major patterns identified: pupillary ruff rarefaction (10/12), patchy atrophy (6/12), notched defects (6/12), and radial streaks (2/12). In a short-term follow-up of 5.9 years, 4 eyes showed a reduction in LAZ count to median 139.5 (67-169) (p = 0.50) and a concomitant increase in ZFZ measurement to median 2.2 (1.7-2.6) (p = 0.17).

conclusionThis study confirms symmetric LAZs count and ZFZ in L-ORD, with ZFZ measurements smaller than in previous cohorts. A reduction in LAZs count and an increase in ZFZ with age were suggested longitudinally, yet findings need further evaluation as follow-up was limited to two cases.

Indexed as

Iris DiseasesRetinal DegenerationAtrophyCollagenHumansLongitudinal StudiesMaleMiddle AgedMutationProspective StudiesC1QTNF5 protein, humanCollagenCTRP5Genetic diseasesLens diseasesMacular degeneration

Identifiers

PMID37043002
PMCPMC7619529
OpenAlexW4365136030

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.