ArticleCureus2022
Cat-Eye Syndrome: A Report of Two Cases and Literature Review.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Rapid whole-genome sequencing in the pediatric intensive care unit: from etiologic diagnosis to precision management-a narrative review.Translational pediatrics · 2026Review
- Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report.Clinical case reports · 2026Article
- Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.Italian journal of pediatrics · 2025Review
- Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.BMC pediatrics · 2024Review
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Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cat-eye syndrome is a rare genetic disease that involves the proximal long (q) arm of chromosome 22. The classic clinical triad includes coloboma of the iris, ears, and anal malformations. This syndrome was named "cat eye" due to the vertical coloboma of the iris. However, the spectrum of clinical manifestations is variable, and the iris coloboma may be absent in 40-50% of cases. Association with congenital heart disease is also frequent and its diagnosis should raise suspicion of a genetic condition. We describe two cases of male infants affected by the cat-eye syndrome, of which no one presented the classic clinical triad. One of them had unpredictable complications that led to prolonged neonatal intensive care unit stay. Although having distinct phenotypes, the diagnosis in both cases was made through nonobstructive total anomalous pulmonary venous return, anal imperforation, and craniofacial anomalies. Iris coloboma was an important clue only in one of them. Prenatal diagnosis is a challenge, such that a genetic study is essential for a final diagnosis in the absence of the classic triad.
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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.