Evidence map›Paper›PMID 35344533›Full record

ArticleRetina (Philadelphia, Pa.)2022

SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.

Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Tina M Lamey, Terri L McLaren, John N De Roach, Dimitar N Azamanov, Ian L McAllister, Ian J Constable, Fred K Chen

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Retina (Philadelphia, Pa.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 42% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

10 authors at 6 institutions in 1 country.

Rachael C Heath JefferyCentre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Australia.
Jennifer A ThompsonAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
Johnny LoSchool of Science, Edith Cowan University, Perth, Western Australia, Australia.
Tina M LameyCentre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Australia.
Terri L McLarenCentre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Australia.
John N De RoachCentre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Australia.
Dimitar N AzamanovDepartment of Diagnostic Genomics, PathWest, Perth, Western Australia, Australia.
Ian L McAllisterCentre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Australia.
Ian J ConstableCentre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Australia.
Fred K ChenCentre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Australia.
University of Western Australia · AUSir Charles Gairdner Hospital · AUEdith Cowan University · AULions Eye Institute · AUPathwest Laboratory Medicine · AURoyal Perth Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo investigate concordance in symptom onset, area of dark autofluorescence (DAF), and growth rate (GR) between Stargardt disease siblings at an age-matched time point.

methodsIn this retrospective longitudinal study of sibling pairs with identical biallelic ABCA4 variants, age at symptom onset, best-corrected visual acuity, atrophy area, and effective radius of DAF on ultra-widefield fundus autofluorescence were recorded. Absolute intersibling differences for both eyes were compared with absolute interocular differences using the Mann-Whitney test.

resultsOverall 39 patients from 19 families were recruited. In 16 families, age-matched best-corrected visual acuity and DAF were compared between siblings. In 8 families, DAF GR was compared. The median (range) absolute difference in age at symptom onset between siblings was 3 (0-35) years. Absolute intersibling differences in age-matched best-corrected visual acuity were greater than interocular differences ( P = 0.01). Similarly, absolute intersibling differences in DAF area and radius were greater than interocular differences ( P = 0.04 for area and P = 0.001 for radius). Differences between absolute interocular and intersibling GR were not statistically significant ( P = 0.44 for area GR and P = 0.61 for radius GR).

conclusionThere was significant discordance in age-matched best-corrected visual acuity and DAF beyond the expected limits of interocular asymmetry. Lack of significant intersibling differences in GR warrants further investigation.

Indexed as

ElectroretinographyMacular DegenerationStargardt DiseaseAdolescentAdultATP-Binding Cassette TransportersAtrophyChildChild, PreschoolFluorescein AngiographyFundus OculiHumansInfantInfant, NewbornLongitudinal StudiesRetrospective StudiesABCA4 protein, humanATP-Binding Cassette Transporters

Identifiers

PMID35344533
PMCPMC9301984
OpenAlexW4221103368

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.