ArticleJournal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus2012
Ophthalmologic findings in Aicardi syndrome.
Article in Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00697411 (Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome), which is not on this map. Cited by 17 papers.
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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.
Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome
Who cites it
17 citing papers in PubMed, 39 citations in OpenAlex.
- Article
- Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.Orphanet journal of rare diseases · 2024Article
- Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.BMC ophthalmology · 2024Article
- Article
- A rare case of bilateral vitreoretinopathy of Aicardi syndrome.American journal of ophthalmology case reports · 2022Article
- Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.Prenatal diagnosis · 2022Article
- Congenital focal abnormalities of the retina and retinal pigment epithelium.Eye (London, England) · 2020Review
- Peripapillary hypopigmented lesion in an infant.Indian journal of ophthalmology · 2020Article
- Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.Journal of neurology · 2019Observational
- Aicardi syndrome in a 20-year-old female.American journal of ophthalmology case reports · 2018Article
- A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations.Case reports in ophthalmological medicine · 2018Article
- Independent variant analysis ofMolecular genetics & genomic medicine · 2017Article
- A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings.Eye (London, England) · 2016Article
- Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome.Ocular oncology and pathology · 2016Article
- Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.American journal of medical genetics. Part A · 2014Review
- Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound.World journal of radiology · 2014Article
- Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum.Vision research · 2014Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundAicardi syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi syndrome.
methodsA single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy.
resultsThe most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%).
conclusionsAlthough the ophthalmic hallmark and defining feature of Aicardi syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.
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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.