Evidence map›Paper›PMID 33512609›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2021

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).

Juanita Pappalardo, Rachael C Heath Jeffery, Jennifer A Thompson, Enid Chelva, Quang Pham, Ian J Constable, Terri L McLaren, Tina M Lamey, John N De Roach, Fred K Chen

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In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2021. 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
0.2field-weighted citation impact, top 53% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  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

10 authors at 2 institutions in 1 country.

Juanita Pappalardo *Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.ORCID http://orcid.org/0000-0003-0453-5486
Rachael C Heath JefferyCentre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.ORCID http://orcid.org/0000-0002-9078-7059
Jennifer A ThompsonAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia.ORCID http://orcid.org/0000-0003-3553-6457
Enid ChelvaAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia.ORCID http://orcid.org/0000-0001-6603-2548
Quang PhamCentre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.ORCID http://orcid.org/0000-0001-6558-0171
Ian J ConstableCentre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.ORCID http://orcid.org/0000-0002-2140-6478
Terri L McLarenCentre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.ORCID http://orcid.org/0000-0003-3195-669X
Tina M LameyCentre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.ORCID http://orcid.org/0000-0002-4608-4073
John N De RoachCentre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.ORCID http://orcid.org/0000-0002-2682-5380
Fred K ChenCentre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia. fredchen@lei.org.au.ORCID http://orcid.org/0000-0003-2809-9930
Lions Eye Institute · AUSir Charles Gairdner Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe c.1430A > G (Asp477Gly) variant in RPE65 has been reported in Irish and Scottish families with either an autosomal dominant retinal dystrophy (adRD) that resembles choroideremia, a vitelliform macular dystrophy or an isolated macular atrophy. We report novel features on multimodal imaging and the natural history of a family harbouring this variant in combination with the BEST1 c.37C > T (Arg13Cys) variant.

methodsMembers of a family with an adRD were examined clinically to ascertain phenotype and underwent genetic testing. Multimodal imaging included widefield colour fundus photography, quantitative autofluorescence (qAF) and spectral domain optical coherence tomography. Electrophysiology and microperimetry were also performed.

resultsVision loss was attributed to foveal atrophy in the proband and choroidal neovascularisation and a vitello-eruptive lesion in one affected son. Peripheral retinal white dots corresponding to subretinal deposits were seen in three patients. The median qAF

conclusionsThe coexistence of the pathogenic BEST1 c.37C > T variant may modify clinical features observed in RPE65 adRD. This study expands our understanding of RPE65 adRD as a retinoid cycle disorder supported by the reduced qAF, fine white retinal dots and corresponding subretinal deposits on OCT in affected members.

Indexed as

Bestrophinscis-trans-IsomerasesRetinal DystrophiesVitelliform Macular DystrophyAgedElectroretinographyFluorescein AngiographyHumansMaleMiddle AgedMutationPedigreePhenotypeRetinoid IsomerohydrolaseTomography, Optical CoherenceBEST1 protein, humanBestrophinscis-trans-IsomerasesRetinoid IsomerohydrolaseBest diseaseChoroidal neovascularisationInherited retinal diseaseMicroperimetryNatural history studyQuantitative fundus autofluorescenceRetinitis pigmentosaVitelliform macular dystrophy

Identifiers

PMID33512609
OpenAlexW3122132939

What OpenQuestion holds

Textmetadata
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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.