Evidence map›Paper›PMID 35464678›Full record

ArticleAmerican journal of ophthalmology case reports2022

Rare occult macular dystrophy with a pathogenic variant in the RP1L1 gene in a patient of Swiss descent.

Olga Zabek, Ioannis Lamprakis, Annekatrin Rickmann, Giacomo Calzetti, Bence György, Hendrik P N Scholl, Maria Della Volpe Waizel

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PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of ophthalmology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 59% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
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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

7 authors at 3 institutions in 2 countries.

Olga ZabekDepartment of Ophthalmology, University of Basel, Basel, Switzerland.
Ioannis LamprakisEye Clinic Heuberger, Olten, Switzerland.
Annekatrin RickmannSulzbach Eye Clinic, Knappschaftskrankenhaus, Sulzbach, Saar, Germany.
Giacomo CalzettiInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Bence GyörgyDepartment of Ophthalmology, University of Basel, Basel, Switzerland.
Hendrik P N SchollDepartment of Ophthalmology, University of Basel, Basel, Switzerland.
Maria Della Volpe WaizelDepartment of Ophthalmology, University of Basel, Basel, Switzerland.
Institute of Molecular and Clinical Ophthalmology Basel · CHUniversity of Basel · CHKnappschaftsklinikum Saar · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: We report a first case of bilateral occult macular dystrophy (OMD) with a c.133C>T (p.Arg45Trp) pathogenic variant in the retinitis pigmentosa 1-like 1 ( Observations: A 34-year-old man presented with decreased visual acuity known since childhood. Fundus examination of both eyes revealed no pathology other than mildly increased granularity of the foveal retinal pigment epithelium. The full-field electroretinogram (ffERG) presented with normal findings while the multifocal electroretinogram (mfERG) showed severely reduced amplitudes of the foveal response. Optical coherence tomography (OCT) showed foveal outer retinal atrophy. Fundus autofluorescence (FAF) imaging demonstrated near-normal findings with minimal mottling at the posterior pole. The genetic analysis revealed a heterozygous pathogenic variant (c.133C>T, p.Arg45Trp) in the Conclusion and importance: Our present case suggests that OMD shows a wide range of clinical presentations with a variety of ophthalmological findings, age of disease onset, visual acuity, and genetic diversity.

Indexed as

Molecular diagnosisOccult macular dystrophyPathogenic variantRP1L1 geneSwitzerland

Identifiers

PMID35464678
PMCPMC9020090
OpenAlexW4223611985

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.