ArticleGenes2021
Expanding the Phenotypic Spectrum of
Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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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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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.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia.Investigative ophthalmology & visual science · 2025Article
- Identification of Genetic Variants Causing Paediatric Cataract in Myanmar.Clinical genetics · 2025Article
- A rare missenseInternational journal of ophthalmology · 2024Article
- Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.International journal of molecular sciences · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model.Nature communications · 2022Article
- Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.Investigative ophthalmology & visual science · 2022Article
- MR-PheWAS for the causal effects of serum magnesium on multiple disease outcomes in Caucasian descent.iScience · 2021Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the
methodswe describe the phenotype of eight patients from seven unrelated families with confirmed mutations in
resultsOnly two patients had the classical aniridia phenotype while the other two presented with aniridia-related manifestations, such as aniridia-related keratopathy or partial aniridia. Congenital cataracts were the main manifestation in three of the patients in this series. All the patients had nystagmus and low visual acuity.
conclusionsThe diagnosis of mild forms of aniridia is challenging, but these patients have a potentially blinding hereditary disease that might present with a more severe phenotype in future generations. Clinicians should be aware of the mild aniridia phenotype and request genetic testing to perform an accurate diagnosis.
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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.