Evidence map›Paper›PMID 37775646›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2023

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.

Amanda J Scopelliti, Robyn V Jamieson, Elizabeth H Barnes, Benjamin Nash, Sulekha Rajagopalan, Elisa L Cornish, John R Grigg

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

Article in Documenta ophthalmologica. Advances in ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.4field-weighted citation impact, top 19% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Identification of novel mutations in theInternational journal of ophthalmology · 2026
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  3. Review
  4. International journal of ophthalmology · 2025
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  5. Article
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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

7 authors at 3 institutions in 1 country.

Amanda J ScopellitiSave Sight Institute, Specialty of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Robyn V JamiesonSave Sight Institute, Specialty of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Elizabeth H BarnesNHMRC Clinical Trials Centre, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Benjamin NashEye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia.
Sulekha RajagopalanDepartment of Clinical Genetics, Liverpool Hospital, Locked Bag 7103, Liverpool, NSW, Australia.
Elisa L CornishSave Sight Institute, Specialty of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
John R GriggSave Sight Institute, Specialty of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia. john.grigg@sydney.edu.au.ORCID 0000-0002-6763-8119
The University of Sydney · AUChildren's Medical Research Institute · AULiverpool Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo describe the natural history of autosomal dominant (AD) GUCY2D-associated cone-rod dystrophies (CRDs), and evaluate associated structural and functional biomarkers.

methodsRetrospective analysis was conducted on 16 patients with AD GUCY2D-CRDs across two sites. Assessments included central macular thickness (CMT) and length of disruption to the ellipsoid zone (EZ) via optical coherence tomography (OCT), electroretinography (ERG) parameters, best corrected visual acuity (BCVA), and fundus autofluorescence (FAF).

resultsAt first visit, with a mean age of 30 years (range 5-70 years), 12 patients had a BCVA below Australian driving standard (LogMAR ≥ 0.3 bilaterally), and 1 patient was legally blind (LogMAR ≥ 1). Longitudinal analysis demonstrated a deterioration of LogMAR by - 0.019 per year (p < 0.001). This accompanied a reduction in CMT of - 1.4 µm per year (p < 0.0001), lengthened EZ disruption by 42 µm per year (p =  < 0.0001) and increased area of FAF by 0.05 mm

conclusionWe have described the natural long-term decline in vision and cone function associated with mutations in GUCY2D and identified a set of functional and structural biomarkers that may be useful as outcome parameters for future therapeutic clinical trials.

Indexed as

Cone-Rod DystrophiesRetinitis PigmentosaAdolescentAdultAgedAustraliaBiomarkersChildChild, PreschoolElectroretinographyHumansMiddle AgedRetrospective StudiesTomography, Optical CoherenceVisual AcuityYoung AdultBiomarkersAutosomal dominantCone–rod dystrophyElectroretinographyGUCY2DInherited retinal diseaseRetinal guanylate cylase-1

Identifiers

PMID37775646
PMCPMC10638150
OpenAlexW4387167046

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.