Congenital aniridia

Common Name(s)

Congenital aniridia

Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (summary by {36:Jordan et al., 1992}). See also Gillespie syndrome ({206700}), in which aniridia is associated with cerebellar ataxia and mental retardation.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital aniridia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital aniridia" returned 31 free, full-text research articles on human participants. First 3 results:

A rare PAX6 mutation in a Chinese family with congenital aniridia.
 

Author(s): F He, D L Liu, M P Chen, L Liu, L Lu, M Ouyang, J Yang, R Gan, X Y Liu

Journal:

 

Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons ...

Last Updated: 5 Nov 2015

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Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors.
 

Author(s): Ji Woong Chang, Jeong Hun Kim, Seong-Joon Kim, Young Suk Yu

Journal: Korean J Ophthalmol. 2014 Dec;28(6):479-85.

 

To describe the clinical course of congenital aniridia and to evaluate prognostic factors for visual outcome after long-term follow-up.

Last Updated: 1 Dec 2014

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A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.
 

Author(s): X Cao, X M Zhou, R Gan, L Q Jiang, L Lu, Y Wang, N Fan, Y Yin, N H Yan, W H Yu, X Y Liu

Journal:

 

Genetic variations within the paired box gene 6 (PAX6) gene are associated with congenital aniridia. To detect the genetic defects in a Chinese twin family with congenital aniridia and nystagmus, exons of PAX6 were amplified by polymerase chain reaction (PCR), sequenced and compared ...

Last Updated: 4 Nov 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital aniridia" returned 1 free, full-text review articles on human participants. First 3 results:

Congenital iris ectropion as an indicator of variant aniridia.
 

Author(s): C Willcock, J Grigg, M Wilson, P Tam, F Billson, R Jamieson

Journal: Br J Ophthalmol. 2006 May;90(5):658-569.

 

Last Updated: 19 Apr 2006

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 10 Aug 2016

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Study of Ataluren in Patients With Aniridia
 

Status: Recruiting

Condition Summary: Aniridia

 

Last Updated: 12 May 2016

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Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects
 

Status: Recruiting

Condition Summary: Full Aniridia; Partial Aniridia

 

Last Updated: 18 Mar 2016

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