ReviewJournal of applied genetics2018
The genetics of aniridia - simple things become complicated.
Review in Journal of applied genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 62 citations in OpenAlex.
- Congenital aniridia: European COST action ANIRIDIA-NET guidelines for diagnosis, management and care.Acta ophthalmologica · 2026Review
- Gene Dosage Sensitivity and Human Genetic Diseases.Journal of inherited metabolic disease · 2025Review
- Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.Ophthalmology and therapy · 2025Review
- The Triple Procedure in Patients with Congenital Aniridia.Journal of clinical medicine · 2024Article
- Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- Genetic Aspects of Glaucoma: An Updated Review.Current molecular medicine · 2024Review
- A rare missenseInternational journal of ophthalmology · 2024Article
- Characterization of neural damage and neuroinflammation in Pax6 small-eye mice.Experimental eye research · 2024Article
- A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.BMC ophthalmology · 2023Article
- Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs.Molecular therapy. Nucleic acids · 2023Article
- A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.BMC medical genomics · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants inInternational journal of molecular sciences · 2023Article
- Therapeutic landscape for inherited ocular diseases: Current and emerging therapies.Singapore medical journal · 2023Review
- Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.European journal of ophthalmology · 2022Article
- Anterior segment dysgenesis: Insights into the genetics and pathogenesis.Indian journal of ophthalmology · 2022Review
- Clinical and molecular aspects of congenital aniridia - A review of current concepts.Indian journal of ophthalmology · 2022Review
- Clinical outcomes and visual prognostic factors in congenital aniridia.BMC ophthalmology · 2022Article
- The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review.Clinical & experimental ophthalmology · 2022Review
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 at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with additional ocular abnormalities. It is inherited in an autosomal dominant manner, with high penetrance and variable expression even within the same family. In most cases the disease is caused by haploinsufficiency truncating mutations in the PAX6 gene; however, in up to 30% of aniridia patients, disease results from chromosomal rearrangements at the 11p13 region. The aim of this review is to present the clinical and genetic aspects of the disease. Furthermore, we present a molecular diagnostic strategy in the aniridia patients. Recent improvement in the genetic diagnostic approach will precisely diagnosis aniridia patients, which is essential especially for children with aniridia in order to determine the risk of developing a Wilms tumor or neurodevelopmental disorder. Finally, based on the previous studies we describe the current knowledge and latest research findings in the topic of pathogenesis of aniridia and possible future treatment.
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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.