ArticleJournal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus2021
Microphthalmia and orbital cysts in DiGeorge syndrome.
Article in Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2021. 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
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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.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Research status of congenital microphthalmos with orbital cyst.International ophthalmology · 2024Review
- 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
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
We report the case of a 4-month-old boy diagnosed with DiGeorge syndrome with novel ocular features. The patient was diagnosed through genetic testing, with a noted 22q11.2 deletion, and had the additional clinical findings of cardiac anomalies, Hirschsprung's disease, and intracranial microhemorrhages. Eye findings included bilateral microphthalmia, persistent fetal vasculature, chorioretinal coloboma, and a unilateral orbital cyst. Given no known additional inciting exposures, a dysgenic mechanism resulting in failed closure of developmental fissures associated with the chromosomal deletion likely gave rise to these combined pathologies.
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Registered trials
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