Evidence map›Paper›PMID 36964447›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2023

Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.

Dhimas H Sakti, Elisa E Cornish, Clare L Fraser, Benjamin M Nash, Trent M Sandercoe, Michael M Jones, Neil A Rowe, Robyn V Jamieson, Alexandra M Johnson, 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 9 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 2 pooled it
2.5field-weighted citation impact, top 11% 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

9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.

  1. Psychiatric manifestations in Neuronal ceroid lipofuscinoses.Orphanet journal of rare diseases · 2026
    Pooled it
  2. Guideline
  3. Article
  4. Review
  5. Article
  6. The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025
    Review
  7. Review
  8. Article
  9. Full-field electroretinography - when do we need it?Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
    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 4 institutions in 2 countries.

Dhimas H SaktiSave Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia.
Elisa E CornishSave Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia.
Clare L FraserSave Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia.
Benjamin M NashEye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia.
Trent M SandercoeDepartment of Ophthalmology, Sydney Children's Hospital Network (Westmead), Sydney, Australia.
Michael M JonesDepartment of Ophthalmology, Sydney Children's Hospital Network (Westmead), Sydney, Australia.
Neil A RoweDepartment of Ophthalmology, Sydney Children's Hospital Network (Westmead), Sydney, Australia.
Robyn V JamiesonSave Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia.
Alexandra M JohnsonDepartment of Neurology, Sydney Children's Hospital, University of New South Wales, Sydney, Australia.
John R GriggSave Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney Eye Hospital Campus, 8 Macquarie St, Sydney, NSW, 2001, Australia. john.grigg@sydney.edu.au.ORCID 0000-0002-6763-8119
The University of Sydney · AUSydney Children’s Hospitals Network · AUChildren's Medical Research Institute · AUUNSW Sydney · AU

Funding

National Health and Medical Research Council APP1099165National Health and Medical Research Council APP1109056National Health and Medical Research Council APP1116360
6 · The paper itself

Abstract

backgroundNeuronal ceroid lipofuscinosis is a group of neurodegenerative disorders with varying visual dysfunction. CLN3 is a subtype which commonly presents with visual decline. Visual symptomatology can be indistinct making early diagnosis difficult. This study reports ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future therapy.

methodsRetrospective review of 5 confirmed CLN3 patients in our eye clinic. Best corrected visual acuity (BCVA), electroretinogram (ERG), ultra-widefield (UWF) fundus photography and fundus autofluorescence (FAF), and optical coherence tomography (OCT) studies were undertaken.

resultsFive unrelated children, 4 females and 1 male, with median age of 6.2 years (4.6-11.7) at first assessment were investigated at the clinic from 2016 to 2021. Four homozygous and one heterozygous pathogenic CLN3 variants were found. Best corrected visual acuities (BCVAs) ranged from 0.18 to 0.88 logMAR at first presentation. Electronegative ERGs were identified in all patients. Bull's eye maculopathies found in all patients. Hyper-autofluorescence ring surrounding hypo-autofluorescence fovea on FAF was found. Foveal ellipsoid zone (EZ) disruptions were found in all patients with additional inner and outer retinal microcystic changes in one patient. Neurological problems noted included autism, anxiety, motor dyspraxia, behavioural issue, and psychomotor regression.

conclusionsCLN3 patients presented at median age 6.2 years with visual decline. Early onset maculopathy with an electronegative ERG and variable cognitive and motor decline should prompt further investigations including neuropaediatric evaluation and genetic assessment for CLN3 disease. The structural parameters such as EZ and FAF will facilitate ocular monitoring.

Indexed as

ElectroretinographyRetinal DiseasesChildElectrophysiologyFemaleHumansMaleMembrane GlycoproteinsMolecular ChaperonesMultimodal ImagingRetinaTomography, Optical CoherenceCLN3 protein, humanMembrane GlycoproteinsMolecular ChaperonesBattenCLN3Lysosomal storage disordersNeuronal ceroid lipofuscinoses

Identifiers

PMID36964447
PMCPMC10256658
OpenAlexW4360942046

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.