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 ({34: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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General Support Organizations

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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 21 free, full-text research articles on human participants. First 3 results:

Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
 

Author(s): Ming Ying, Ruifang Han, Peng Hao, Liming Wang, Ningdong Li

Journal:

 

Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia.

Last Updated: 9 Jul 2013

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A novel PAX6 deletion in a Chinese family with congenital aniridia.
 

Author(s): Jian Huan Chen, Weitao Lin, Guoying Sun, Chukai Huang, Yuqiang Huang, Haoyu Chen, Chi Pui Pang, Mingzhi Zhang

Journal: Mol. Vis.. 2012 ;18():989-95.

 

To identify a disease-causing paired box 6 (PAX6) gene mutation in a Chinese family affected by autosomal dominant congenital aniridia.

Last Updated: 2 May 2012

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Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.
 

Author(s): Shin Hae Park, Man Soo Kim, Hyojin Chae, Yonggoo Kim, Myungshin Kim

Journal: Mol. Vis.. 2012 ;18():488-94.

 

To analyze the paired box gene 6 (PAX6) in Korean patients with congenital aniridia.

Last Updated: 6 Mar 2012

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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 2 free, full-text review articles on human participants. First 3 results:

[Congenital aniridia keratopathy treatment].
 

Author(s): J S López-García, I García-Lozano, L Rivas, J Martínez-Garchitorena

Journal: Arch Soc Esp Oftalmol. 2006 Aug;81(8):435-44.

 

To attempt to review the aniridia keratopathy pathogenesis and establish a treatment protocol according to the severity of the symptoms.

Last Updated: 25 Aug 2006

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 14 Aug 2012

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Last Updated: 11 Nov 2013

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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: 27 Feb 2014

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