ReviewCurrent neurology and neuroscience reports2013
Congenital abnormalities of the optic nerve: from gene mutation to clinical expression.
Review in Current neurology and neuroscience reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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.
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.
Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Variable Phenotypic Expression ofMedicina (Kaunas, Lithuania) · 2025Article
- Signaling - transcription interactions in mouse retinal ganglion cells early axon pathfinding -a literature review.Frontiers in ophthalmology · 2023Review
- Papillorenal syndrome: a systemic diagnosis not to be missed on funduscopy.BMJ case reports · 2021Article
- A novelAmerican journal of ophthalmology case reports · 2021Article
- Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice.Investigative ophthalmology & visual science · 2020Article
- Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.Journal of pediatric neurosciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Optic nerve malformations are common causes of congenital blindness and are recognized with increasing prevalence. The importance of identifying these malformations lies not only in determining the cause and level of visual impairment, but also in looking for associated treatable or life threatening systemic conditions. A number of genetic mutations have been identified in the development of optic disc anomalies, such as ones in PAX2 or PAX6. Recent advances in genetic testing like array comparative genomic hybridization allow the detection of microdeletions that were previously difficult or impossible to identify.
Indexed as
Identifiers
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Registered trials
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.