Evidence map›Paper›PMID 39023660›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2024

Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.

Prathiba Ramakrishnan, Matthew K Kenworthy, Jonathan A Alexis, Jennifer A Thompson, Tina M Lamey, Fred K Chen

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2024. 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
–field-weighted citation impact
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.

  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.

Prathiba RamakrishnanOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia.
Matthew K KenworthyOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia.
Jonathan A AlexisOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia.
Jennifer A ThompsonAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.
Tina M LameyAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.
Fred K ChenOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA, Australia. fred.chen@lei.org.au.ORCID 0000-0003-2809-9930

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo report novel multimodal imaging features and long-term follow-up of Orthodenticle Homeobox 2 (OTX2)-associated pattern Gdystrophy.

methodsA 14-year-old boy referred with glaucoma suspect and macular pigmentation underwent fundus autofluorescence imaging, optical coherence tomography, fluorescein and indocyanine green angiography, visual field test, microperimetry and electrophysiology over a ten-year period. Next-generation sequencing panel identified a de novo heterozygous likely pathogenic OTX2 variant, c.259G>A, [p.(Glu87Lys)].

resultsVisual acuity was 20/40 OD and 20/30 OS. Examination showed bilateral enlarged optic nerve heads and increased disc cupping, multiple cilioretinal arteries, a pigmentary maculopathy with stellate-shaped region of hypoautofluorescence, shallow serous macular detachment, subretinal deposits and temporal avascular retina. Angiography showed no source of leakage and absence of retinal neovascularisation despite extensive peripheral non perfusion. Electrophysiological assessments demonstrated mild progressive rod and cone pathway abnormalities, reduced light-adapted b:a ratio, and reduced Arden ratio on electro-oculogram. Ten-year follow-up confirmed a stable disease course despite persistent submacular fluid. There was no associated pituitary structural abnormality or dysfunction.

conclusionsThis case study contributes to further understanding of OTX2-associated pattern dystrophy, highlighting its stability over 10 years. Further investigation into inter-individual and intrafamilial variability is warranted.

Indexed as

Fluorescein AngiographyMultimodal ImagingOtx Transcription FactorsTomography, Optical CoherenceVisual AcuityAdolescentElectroretinographyFollow-Up StudiesFundus OculiHumansMaleOptic DiskRetinal DystrophiesTime FactorsVisual FieldsVisual Field TestsOTX2 protein, humanOtx Transcription FactorsAvascular retinaMacular dystrophyMegalopapillaMicroperimetryMultimodal imaging

Identifiers

PMID39023660
PMCPMC11442598

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Registered trials

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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.