Related Experiment Video
Updated: Jan 26, 2026
Implantation of Total Artificial Heart in Congenital Heart Disease
Published on: July 18, 2014
[Congenital aniridia in children]
1Service d'ophtalmologie, hôpital Necker Enfants-malades, AP-HP, centre de maladies rares OPHTARA, université Paris-Descartes, université Sorbonne-Paris-Cité, Paris, France. Unité CNRS FR3636, université Paris-Descartes, université Sorbonne-Paris-Cité, Paris, France. Coordonnateur du Centre OPHTARA maladies rares en Ophtalmologie, Centre Européen ERN EYE. Présidente du CMS Geniris et Aniridia Europe.
Insights
Congenital aniridia is a rare genetic pan-ocular disease affecting the iris, causing photophobia and nystagmus in children. Early detection and treatment are crucial to manage associated syndromes and prevent severe visual impairment.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Congenital aniridia is a rare genetic disorder affecting the entire eye, characterized by partial or complete iris absence.
- Clinical manifestations in children include significant photophobia and nystagmus.
- The condition's prevalence ranges from 1:40,000 to 1:100,000 births, potentially underestimated.
Purpose of the Study:
- To summarize the key aspects of congenital aniridia in children.
- To highlight associated systemic disorders and their implications.
- To emphasize the importance of early diagnosis and comprehensive management.
Main Methods:
- Review of existing literature on congenital aniridia.
- Analysis of clinical signs, prevalence, and associated syndromes.
- Discussion of diagnostic approaches and therapeutic strategies.
Main Results:
- Congenital aniridia presents with ocular abnormalities including foveal hypoplasia, glaucoma, cataracts, and corneal opacification.
- Associated syndromes like WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies, mental retardation) and Gillespie syndrome require rapid detection.
- The disease frequently leads to severe visual impairment or blindness, necessitating UV protection and optical correction.
Conclusions:
- Prompt diagnosis and management of congenital aniridia and its associated conditions are essential.
- Comprehensive ocular treatment and UV protection are critical for visual preservation.
- Ongoing clinical research in corneal stem cells and gene therapy offers future treatment possibilities.
Abstract:
Congenital aniridia in children. Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). The disease is characterized by partial or complete absence of iris. Clinical signs in children are essentially photophobia and nystagmus. The prevalence was reported range from 1:40,000 births to 1:100,000 but may be underestimated. It can also be associated with other systemic disorders then constituting a syndromic aniridia. These different syndromes are to be detected rapidly at risk of nephroblastoma in WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies, mental retardation) or cerebellar ataxia in Gillespie syndrome. The diagnosis is mostly performed in infants. Congenital aniridia combines several types of ocular disorders, such as aniridia, foveal hypoplasia, glaucoma, cataract, and progressive corneal opacification. Preventive therapies should be instituted and all ocular aspects of the disease should be treated. This disease often leads to major visual impairment or even long-term blindness and requires UV protection optical correction. Clinical research is active with corneal stem cells and gene therapy.
Related Concept Videos
01:29Drug Dosing: Infants and Children
01:35Pedigree Analysis
01:10Nature and Nurture
01:49Probability Laws