Evidence map›Paper›PMID 29525873›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2018

Retinal findings in a patient of French ancestry with CABP4-related retinal disease.

Vasily Mikhaïlovitch Smirnov, Christina Zeitz, Nagasamy Soumittra, Isabelle Audo, Sabine Defoort-Dhellemmes

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In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.2field-weighted citation impact, top 48% 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

8 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. A novel homozygous nonsense variant inOphthalmic genetics · 2024
    Article
  5. Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.Documenta ophthalmologica. Advances in ophthalmology · 2024
    Article
  6. Article
  7. Article
  8. Calcium Sensors in Neuronal Function and Dysfunction.Cold Spring Harbor perspectives in biology · 2019
    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

5 authors at 4 institutions in 3 countries.

Vasily Mikhaïlovitch SmirnovExploration of Vision and Neuro-Ophthalmology Department, Lille University Hospital, Rue Emilie Laine, 59037, Lille Cedex, France. vasily.smirnov@chru-lille.fr.
Christina ZeitzUPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de la Vision, Sorbonne Universités, Paris, France.
Nagasamy SoumittraSN ONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Isabelle AudoUPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de la Vision, Sorbonne Universités, Paris, France.
Sabine Defoort-DhellemmesExploration of Vision and Neuro-Ophthalmology Department, Lille University Hospital, Rue Emilie Laine, 59037, Lille Cedex, France.
Université de Lille · FRCentre National de la Recherche Scientifique · FRInstitut de la Vision · FROil and Natural Gas Corporation (India) · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionCABP4-related retinal dysfunction is a cone-rod synaptic transmission disorder with electronegative electroretinogram (ERG) waveform. It is a rare retinal dysfunction that can be classified into the incomplete form of congenital stationary night blindness. Absent foveal reflex and overall foveal thinning were previously reported, but in most cases the fundus appearance was described as nearly normal. We report here peculiar macular changes in a patient of French ancestry harbouring CABP4 mutations.

methodsComplete ocular examination and full-field ERG were performed at the initial presentation and follow-up. Multimodal fundus imagining, including spectral-domain optical coherence tomography, colour, infrared reflectance and short-wavelength autofluorescence photographs, was performed during follow-up visits.

resultsA 7-month-old infant was addressed to our department for visual unresponsiveness and nystagmus. ERG had an electronegative waveform, even for light-adapted stimuli, thus supporting the diagnosis of photoreceptor-bipolar cell transmission disorder. Genetic investigations discovered a compound heterozygous mutation in CABP4: c.646C > T, p.Arg216*/c.673C > T, p.Arg225*. Multimodal fundus imaging, performed at follow-up visits, showed fine radial folds at the vitreomacular interface and dark foveal dots in both eyes. Optic coherence tomography revealed a focal foveal ellipsoid zone gap. DISCUSSION: Initial presentation was misleading with Leber congenital amaurosis. The electronegative ERG waveform reoriented the genetic investigations and thus establishing a correct diagnosis. To the best of our knowledge, the peculiar fundus changes observed in our patient were never reported before. We hypothesized that a foveal ellipsoid zone interruption discovered in our patient could reflect mostly a cone dysfunction. It was unclear whether the fine radial folds in both maculae were linked with high hyperopia or were an intrinsic feature of the retinal disease.

conclusionCABP4-related retinal disease is a cone-rod system disorder with possible foveal abnormalities.

Indexed as

MutationCalcium-Binding ProteinsElectroretinographyEye Diseases, HereditaryFluorescein AngiographyFranceFundus OculiGenetic Diseases, X-LinkedHumansInfantMaleMyopiaNight BlindnessPedigreePhotoreceptor Cells, VertebrateRetinal DiseasesCABP4 protein, humanCalcium-Binding ProteinsCABP4ElectroretinographyHemeralopiaMultimodal fundus imagingOCT

Identifiers

PMID29525873
OpenAlexW2789659950

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.