ReviewBMJ case reports2015
Keratoconus in an adult with 22q11.2 deletion syndrome.
Review in BMJ case reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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
2 citing papers in PubMed, 4 citations in OpenAlex.
- The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.Life (Basel, Switzerland) · 2024Review
- PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.Scientific reports · 2019Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
22q11.2 Deletion syndrome is one of the most common microdeletional syndromes, with an incidence of 1:4000 live-births, and potentially affects every organ in the body. More than 180 associated clinical features have been reported and not one phenotypic feature is present in 100% of cases. Ocular manifestations reported based on early childhood examinations include eyelid hooding, strabismus, posterior embryotoxon, retinal vessel tortuosity and refractive errors. Keratoconus has been reported once before in association with 22q11.2 deletion syndrome in a young adult. We report the second case of keratoconus in association with 22q11.2 deletion syndrome.
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What OpenQuestion holds
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.