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 {35:Jordan et al., 1992}). Genetic Heterogeneity of Aniridia There is also evidence that aniridia-2 (AN2) is caused by mutation in a PAX6 cis-regulatory element (SIMO) that resides in an intron of the adjacent ELP4 gene ({606985}), and that aniridia-3 (AN3) is caused by mutation in the TRIM44 gene ({612298}) on chromosome 11p13. 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 34 free, full-text research articles on human participants. First 3 results:

Congenital aniridia with cataract: case series.
 

Author(s): Jin Da Wang, Jing Shang Zhang, Ying Xiong, Jing Li, Xiao Xia Li, Xue Liu, Jing Zhao, Frank F Tsai, Jhanji Vishal, Qi Sheng You, Yao Huang, Xiu Hua Wan

Journal:

 

This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation.

Last Updated: 5 Jul 2017

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Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.
 

Author(s): Woo Jin Kim, Jong Ha Kim, Nam Chun Cho

Journal: Indian J Ophthalmol. 2017 Jan;65(1):55-56.

 

Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most ...

Last Updated: 16 Mar 2017

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The efficacy and complications of black diaphragm intra-ocular lens implantation in patients with congenital aniridia.
 

Author(s): Xiaodi Qiu, Yinghong Ji, Tianyu Zheng, Yi Lu

Journal: Acta Ophthalmol. 2016 Aug;94(5):e340-4.

 

To evaluate the efficacy and complications of black diaphragm intra-ocular (BDI) lens implantation in patients with congenital aniridia.

Last Updated: 21 Jul 2016

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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: 12 Jul 2017

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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: 7 Apr 2017

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One-hour Troponin in a Low-prevalence Population of Acute Coronary Syndrome
 

Status: Recruiting

Condition Summary: Non-ST Elevation Myocardial Infarction; Acute Coronary Syndrome; Angina, Unstable; NSTEMI - Non-ST Segment Elevation MI

 

Last Updated: 1 Dec 2016

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