Evidence map›Paper›PMID 40455352›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2025

CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features.

Jonathan A Alexis, Prathiba Ramakrishnan, Matthew K Kenworthy, Jennifer A Thompson, Enid S Chelva, Fred K Chen

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PubMed Full text at PMC Publisher
In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2025. 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. Review
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.

Jonathan A Alexis *Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Nedlands, WA, Australia.ORCID 0000-0002-3590-0477
Prathiba Ramakrishnan *Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Nedlands, WA, Australia.ORCID 0009-0008-2101-5689
Matthew K KenworthyOcular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Nedlands, WA, Australia.ORCID 0000-0003-1772-6919
Jennifer A ThompsonAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.ORCID 0000-0003-3553-6457
Enid S ChelvaAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.ORCID 0000-0001-6603-2548
Fred K ChenOcular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Nedlands, WA, Australia. fred.chen@lei.org.au.ORCID 0000-0003-2809-9930

Funding

Channel 7 Telethon Trust GNT1188694National Health and Medical Research Council MRF1142962Retina Australia GNT1054712Western Australian Future Health and Innovation Fund, Government of Western Australia GNT1116360
6 · The paper itself

Abstract

purposeTo describe multimodal imaging and electrophysiology features of CTNNA1-associated retinal dystrophy in a family with p.(Leu318Ser) substitution.

methodsThree family members including a 48-year-old male proband, his 52-year-old sister, and their 67-year-old mother, were evaluated with multimodal imaging and electrophysiology. The proband, referred with suspected Best's disease, underwent a retinal dystrophy panel and two affected family members were target sequenced for the familial variant.

resultsThe NM_001903.5:c.953T > C variant in CTNNA1 segregated with affected family members. They maintained a visual acuity of 20/25 or better throughout 2-4 years of follow-up. The proband exhibited butterfly-shaped pigment dystrophy whilst his sister had no macular lesions, and their mother had foveal pigmentary changes. All three displayed peripheral retinal reticular pigmentation with variable atrophy. Microperimetry demonstrated enlarging paracentral scotoma in the proband whilst Esterman binocular suprathreshold test showed reproducible peripheral loss in the proband's sister. Multifocal electroretinography (ERG) confirmed central macular dysfunction in the proband. In all three, full-field ERG showed mildly delayed dark-adapted (DA) 0.01 b-wave and DA3.0 a-wave, and a light-rise of < 1.7 in one or both eyes on electro-oculography (EOG).

conclusionsCTNNA1-associated retinal dystrophy due to p.(Leu318Ser) has a unique peripheral retinal phenotype despite variable macular involvement. Reduced EOG light-rise and peripheral reticular pigmentation should raise suspicion of CTNNA1 in butterfly-shaped pigment dystrophy.

Indexed as

Multimodal ImagingRetinal DystrophiesAgedElectroretinographyFemaleFluorescein AngiographyHumansMaleMiddle AgedPedigreeTomography, Optical CoherenceVisual AcuityVisual FieldsVisual Field TestsBest’s diseaseButterfly-shaped pigment dystrophyMacular pattern dystrophyMicroperimetryRetinitis pigmentosa

Identifiers

PMID40455352
PMCPMC12568884

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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.