Evidence map›Paper›PMID 27239462›Full record

ArticleOcular oncology and pathology2016

Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome.

Patricia Y Akinfenwa, Patricia Chévez-Barrios, Clio A Harper, Dan S Gombos

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Ocular oncology and pathology, 2016. 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
2.0field-weighted citation impact, top 11% 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, 5 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

4 authors at 3 institutions in 2 countries.

Patricia Y AkinfenwaInterdepartmental Translational Biology and Molecular Medicine Graduate Program, Baylor College of Medicine, Houston, Tex., USA; Department of Pediatrics, Baylor College of Medicine, Houston, Tex., USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, Tex., USA.
Patricia Chévez-BarriosInterdepartmental Translational Biology and Molecular Medicine Graduate Program, Baylor College of Medicine, Houston, Tex., USA; Department of Ophthalmology, Baylor College of Medicine, Houston, Tex., USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, Tex., USA; Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, Tex., USA; Retinoblastoma Center of Houston, MD Anderson Cancer Center, University of Texas, Houston, Tex., USA; Department of Pathology and Laboratory Medicine, MD Anderson Cancer Center, University of Texas, Houston, Tex., USA; Departments of Pathology and Laboratory Medicine, Weill Cornell Medical College, Cornell University, New York, N.Y., USA; Department of Ophthalmology, Weill Cornell Medical College, Cornell University, New York, N.Y., USA.
Clio A HarperAustin Retina Associates, Austin, Tex., USA.
Dan S GombosDepartment of Pediatrics, Baylor College of Medicine, Houston, Tex., USA; Department of Ophthalmology, Baylor College of Medicine, Houston, Tex., USA; Texas Children's Cancer Center, Texas Children's Hospital, Houston, Tex., USA; Retinoblastoma Center of Houston, MD Anderson Cancer Center, University of Texas, Houston, Tex., USA; Department of Head and Neck Surgery, MD Anderson Cancer Center, University of Texas, Houston, Tex., USA.
The University of Texas MD Anderson Cancer Center · USCenter for Translational Molecular Medicine · NLRetina Associates · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

aimsRetinoblastoma (Rb) generally presents in children <8 years of age. Aicardi syndrome (AS) is a congenital, neurodevelopmental disorder that has been associated with various ophthalmic abnormalities, but no reports have related it to a delayed presentation of Rb. This report describes the late presentation of Rb in a teenage patient with AS and suggests modifications in ophthalmic screening to facilitate early detection.

methodsA chart review was conducted of a patient with AS. We examined the ophthalmic history, fundus images and B-scan ultrasonography. Histopathological analysis was conducted on globe sections.

resultsThe patient's ophthalmic history was consistent with normal findings of AS: fundus images and B-scan ultrasonography revealed chorioretinal lacunae and an area of retinal detachment, respectively. The patient presented with chronic irritation and mydriasis of the blind left eye. This was enucleated as treatment. Histopathology revealed a focally differentiated Rb. Immunohistochemistry demonstrated that the tumor cells were positive for synaptophysin and negative for the wild-type Rb protein, and a high Ki-67 proliferation index was shown.

conclusionOur patient was diagnosed with Rb at age 16. AS has been associated with numerous ophthalmic findings, but this is the first report relating it to a late Rb presentation. Meticulous ophthalmic examinations should be considered through the teenage years and early adulthood of AS patients.

Indexed as

Aicardi syndromeOcular pathologyOcular tumorsRetinoblastoma

Identifiers

PMID27239462
PMCPMC4881269
OpenAlexW2298465948

What OpenQuestion holds

Textmetadata
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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.