Evidence map›Paper›PMID 29503925›Full record

ArticleAmerican journal of ophthalmology case reports2016

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.

Rossana L Sanchez, Jiong Yan, Sarah Richards, Gary Mierau, Eric P Wartchow, Christin D Collins, Suma P Shankar

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

Article in American journal of ophthalmology case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact, top 90% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Genes · 2022
    Article
  3. Article
  4. 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

7 authors at 2 institutions in 1 country.

Rossana L SanchezDepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA.
Jiong YanDepartment of Ophthalmology, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA.
Sarah RichardsDepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA.
Gary MierauDepartment of Pathology, Children's Hospital Colorado, 13123, E 16th Ave, Aurora, CO, USA.
Eric P WartchowDepartment of Pathology, Children's Hospital Colorado, 13123, E 16th Ave, Aurora, CO, USA.
Christin D CollinsDepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA.
Suma P ShankarDepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA.
Emory University · USChildren's Hospital Colorado · US

Funding

P30-Core Grant for Vision Research Core CP30EY006360 · NEI · EMORY UNIVERSITY · PI BOATRIGHT, JEFFREY H · 1986 to 2025
$15.3M
NEI NIH HHS P30 EY006360
6 · The paper itself

Abstract

purposeTo report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. OBSERVATIONS: Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical coherence tomography, visual fields and electroretinogram (ERG). Molecular genetic testing using Next Generation Sequencing panel (NGS) and array Comparative Genomic Hybridization (aCGH).The siblings in this study presented to the eye clinic with retinitis pigmentosa and cystoid macular edema, and a history of seizures but no severe neurocognitive deficits or regression. Genetic testing identified a c.200C > T (p.A67V) variant in the

conclusionsand Importance: Pathogenic variants in

Indexed as

Chromosome microarrayEpilepsyLysosomal storage disorderNeuronal ceroid lipofuscinosisNext generation sequencing panelVision loss

Identifiers

PMID29503925
PMCPMC5757465
OpenAlexW2512493831

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.