Evidence map›Paper›PMID 37225827›Full record

ArticleEye (London, England)2023

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

Brian G Ballios, Amarilla Mandola, Alaa Tayyib, Anupreet Tumber, Jenny Garkaby, Linda Vong, Elise Heon, Chaim M Roifman, Ajoy Vincent

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

Article in Eye (London, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.7field-weighted citation impact, top 17% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

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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

9 authors at 2 institutions in 1 country.

Brian G BalliosDepartment of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.
Amarilla MandolaDivision of Immunology and Allergy, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.
Alaa TayyibDepartment of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.
Anupreet TumberDepartment of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
Jenny GarkabyDivision of Immunology and Allergy, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.
Linda VongThe Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada.
Elise HeonDepartment of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.ORCID 0000-0003-4143-9311
Chaim M RoifmanDivision of Immunology and Allergy, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.
Ajoy VincentDepartment of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada. ajoy.vincent@sickkids.ca.ORCID 0000-0001-6446-3846
University of Toronto · CAHospital for Sick Children · CA

Funding

Foundation Fighting Blindness (Foundation Fighting Blindness, Inc.) CD-CL-0617-0727-HSC
6 · The paper itself

Abstract

purposeTo characterize the retinal phenotype in RNU4ATAC-associated Roifman syndrome.

methodsTen patients (including 8 males) with molecularly confirmed Roifman syndrome underwent detailed ophthalmologic evaluation including fundus imaging, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), and electroretinography (ERG). Six patients had follow-up eye exams. All patients also underwent comprehensive examination for features of extra-retinal Roifman syndrome.

resultsAll patients had biallelic RNU4ATAC variants. Nyctalopia was common (7/10). Visual acuity at presentation ranged from 20/20 to 20/200 (Age Range: 5-41 years). Retinal exam revealed features of generalized retinopathy with mid-peripheral pigment epithelial changes. A para or peri-foveal ring of hyper-autofluorescence was the commonest FAF abnormality noted (6/8). The SD-OCT demonstrated relative preservation of the foveal ellipsoid zone in six cases; associated features included cystoid changes (5/10) and posterior staphyloma (3/10). The ERG was abnormal in all patients; nine showed generalized rod-cone dystrophy, whilst one patient with sectoral retinal involvement only had isolated rod dystrophy (20 years old). On follow-up examination (Mean duration: 8.16 years), progressive loss of visual acuity (2/6), mid-peripheral retinal atrophy (3/6) or shortening of ellipsoid zone width (1/6) were observed.

conclusionThis study has characterized the retinal phenotype in RNU4ATAC-associated Roifman syndrome. Retinal involvement is universal, early-onset, and overall, the retinal and FAF features are consistent with rod-cone degeneration that is slowly progressive over time. The sub-foveal retinal ultrastructure is relatively preserved in majority of patients. Phenotypic variability independent of age exists, and more study of allelic- and sex-based determinants of disease severity are necessary.

Indexed as

OsteochondrodysplasiasRetinal DystrophiesAdolescentAdultCardiomyopathiesChildChild, PreschoolElectroretinographyFluorescein AngiographyHumansMalePhenotypePrimary Immunodeficiency DiseasesRetinaRetinal DiseasesTomography, Optical Coherence

Identifiers

PMID37225827
PMCPMC10697969
OpenAlexW4377989025

What OpenQuestion holds

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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.