Aniridia

A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.

Networked: 342 relevant articles (15 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Glaucoma
2.	Cataract (Cataracts)
3.	Aphakia
4.	Wounds and Injuries (Trauma)
5.	Stevens-Johnson Syndrome

Experts

1.	Yasuda, Tetsuyuki: 3 articles (01/2015 - 01/2002)
2.	Terry, Mark A: 3 articles (07/2014 - 12/2008)
3.	Brooks, Brian P: 3 articles (11/2013 - 07/2011)
4.	Mannis, Mark J: 3 articles (07/2013 - 03/2003)
5.	Dong, Xiaoguang: 3 articles (06/2013 - 11/2003)
6.	Yu, Bin: 3 articles (06/2013 - 11/2003)
7.	Agarwal, Amar: 3 articles (05/2013 - 03/2010)
8.	Jacob, Soosan: 3 articles (05/2013 - 03/2010)
9.	Xie, Lixin: 3 articles (01/2013 - 11/2003)
10.	Holland, Edward J: 3 articles (07/2011 - 12/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aniridia:

1.	Proteins (Proteins, Gene)IBA 12/06/2013 - "The proteins with different expression in patients' tears may be new candidate molecules involved in the pathophysiology of aniridia and thus may be helpful for development of novel treatment strategies for the symptomatic therapy of this vision threatening condition. " 12/06/2013 - "This study is first to demonstrate protein composition and protein expression in aniridic tears and identifies proteins with different abundance in tear fluid from patients with congenital aniridia vs. healthy tears." 12/06/2013 - "To screen for proteins involved in the aniridia pathophysiology, the tear fluid of patients with diagnosed congenital aniridia was examined using two-dimensional electrophoresis (2-DE) and liquid chromatography-tandem mass spectrometry (LC-MS/MS). " 01/01/1995 - "The six new aniridia cases reported here have mutations predicted to generate incomplete PAX6 proteins. " 05/01/1994 - "Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins."
2.	CosmeticsIBA 02/01/2010 - "Three eyes with traumatic aniridia observed good cosmetic outcome and a significant reduction in glare. " 04/01/2013 - "We report the use of a custom hand painted iris implant, which offers outstanding cosmetic results in the treatment of aniridia. " 10/01/2011 - "One patient with traumatic aniridia complained of significant residual glare at the 3-month postoperative visit and was reoperated to reduce the simulated pupil to 4 mm. The cosmetic outcomes were analysed and classified as excellent in eight patients and good in three. " 05/01/2007 - "To determine the functional and cosmetic outcomes of combined iris reconstruction lens (Ophtec) implantation and penetrating keratoplasty (PK) in eyes with acquired partial or complete aniridia. " 04/01/2015 - "This article reports the first case of a sutureless artificial iris prosthesis used in combination with cataract surgery for congenital aniridia with successful visual and cosmetic results. "
3.	DNA (Deoxyribonucleic Acid)IBA 10/01/2008 - "To study the molecular genetic mechanism of hereditary congenital aniridia, the entire coding exons (exon 4-13) of PAX6 gene and the flanking exon-intron junctions were amplified through PCR from the genomic DNA of all the two patients in a Chinese family with aniridia. " 10/01/2012 - "Total genomic DNA was isolated from peripheral blood of two aniridia patients. " 01/01/2012 - "Genomic DNA was isolated from peripheral blood leukocytes of 22 aniridia patients in 18 unrelated families. " 01/01/2012 - "Total genomic DNA was isolated from the peripheral blood of the aniridia patients, all healthy family members and 100 healthy volunteers. " 01/01/2011 - "A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorphism (SSCP) followed by sequencing of genomic DNA from peripheral blood. "
4.	Peters anomalyIBA 12/01/2006 - "Ten patients affected with Peters anomaly, 8 with Rieger anomaly, and 3 with aniridia were included in this study. " 01/01/2015 - "Human PAX6 mutations are associated with severe ocular disorders such as aniridia, Peters anomaly and chronic limbal stem cell insufficiency. " 08/01/2013 - "Case 2 was diagnosed as congenital aniridia combined with Peters anomaly in both eyes. " 01/01/2012 - "Four of these changes, c.47C>T (p.Thr16Met), c.359C>T (p.Pro120Leu), c.517A>C (p.Asn173His), and c.818_829dup (p.Arg273_Gly276dup), affected conserved regions and were observed primarily in probands with aniridia or Peters anomaly; out of these four variants, one, p.Arg273_Gly276dup, was not detected in control populations and two, p.Pro120Leu and p.Asn173His, were statistically enriched in cases with aniridia or Peters anomaly. " 02/01/2011 - "We report a child with aniridia and Peters anomaly associated with a PAX6 gene mutation."
5.	CatalaseIBA 06/01/1986 - "Use of catalase polymorphisms in the study of sporadic aniridia." 12/01/1991 - "However linkage analysis using tightly linked chromosome 11p13 markers flanking the aniridia locus (catalase, D11S151, and D11S325) made it highly unlikely that this patient inherited the aniridia gene from his affected mother." 01/01/1989 - "In a large pedigree with autosomal dominant aniridia, we found close linkage between the aniridia locus AN2 and the markers catalase (CAT) (zeta = 7.27 at theta = 0.00) and D11S151 (zeta = 3.86 at theta = 0.10) flanking the AN2 locus on 11p13. " 01/01/1989 - "Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family." 12/01/1988 - "Utilising somatic cell hybrids from patients with Wilms' tumours and aniridia, we show that while the T-ALLbcr maps distal to the catalase gene at 11p13, it maps outside the shortest region of overlap of a series of 11p13 deletions associated with Wilms'-Aniridia. "
6.	Axenfeld-Rieger syndromeIBA 06/01/1999 - "Thirty-eight eyes of 29 patients were included in the study; 34 eyes (89.5%) had refractory primary congenital glaucoma with documented failure of primary surgery, 2 eyes (5.3%) had Axenfeld-Rieger syndrome and 2 eyes (5.3%) had aniridia. " 01/01/2015 - "The search software identified 29 congenital aniridia, 6 Axenfeld/Rieger syndrome, 11 BEPS, 3 Nanophthalmos, and 3 Rubinstein-Taybi syndrome. " 01/01/2011 - "Combined aniridia ring implantation and cataract surgery in an Axenfeld-Rieger syndrome: a UBM report." 01/01/2011 - "To describe ultrasound biomicroscopy (UBM) features in a patient with Axenfeld-Rieger syndrome (ARS) and cataract before and after anterior segment surgery using intraocular lens (IOL) and aniridic ring implantation (Morcher Aniridia rings 50 D). " 10/01/2015 - "Other secondary developmental corneal diseases may include Axenfeld-Rieger syndrome, Aniridia, and primary congenital glaucoma, all of which have specific genotypic characterization. "
7.	IceIBA 01/01/1987 - "This study did not support either an anatomic or pathogenic relationship between aniridia and the ICE syndromes." 01/01/1987 - "In order to investigate the similarities between aniridia and the ICE syndromes, we performed specular microscopy of the corneal endothelium in nine patients with aniridia. " 01/01/1987 - "Aniridia and the iridocorneal endothelial (ICE) syndromes both are conditions which include abnormalities of the cornea, iris, and progressive iridocorneal adhesions which may result in glaucoma. " 06/01/2011 - "Axenfeld-Rieger syndromes, ICE syndromes (essential iris atrophy, Chandler's syndrome, Cogan-Reese syndrome), aniridia]." 07/01/2010 - "DSAEK has been successfully used in postpenetrating keratoplasty, ICE syndrome, aniridia, aphakia, complex anterior chambers with anterior chamber lenses, and pediatric patients. "
8.	3' Untranslated Regions (3' UTR)IBA 12/01/2015 - "In this study, we identified four mutations exclusively presented in aniridia patients from a four-generation Chinese pedigree, including two single nucleotide substitutions in the 3'UTR of PAX6 (NM_000280.4:c.[*76G>A; *2977C>A]) and two missense mutations in tripartite motif containing 44 (TRIM44, NM_017583.4:c.[191C>A; 463G>A]), which lead to amino acid changes p.S64Y and p.G155R, respectively. " 01/01/2012 - "The NR2E1 coding region, 5' and 3' untranslated regions (UTRs), exon flanking regions including consensus splice sites, and six evolutionarily conserved non-coding candidate regulatory regions were analyzed by sequencing 58 probands with aniridia of whom 42 were negative for PAX6 mutations. "
9.	Mitochondrial DNA (mtDNA)IBA 02/01/2007 - "De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease." 03/01/2002 - "Our studies on candidate genes of eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy. "
10.	latanoprost (Xalatan)FDA Link 09/01/1998 - "In a child with aniridia and glaucoma, a beta-receptor blocking drug was used in combination with Latanoprost. " 09/01/1998 - "[Systemic side-effects of latanoprost in a child with aniridia and glaucoma]." 01/01/2004 - "In our study we evaluated the effect of latanoprost in 14 children aged 12-18 years (mean 15 years): 10 patients with glaucoma juvenile (I group); 2 patients with secondary glaucoma because of uveitis recidivans and 2 patients with aniridia and albinismus (II group). "

Therapies and Procedures

1.	Intraocular Lenses (Intraocular Lens) 05/01/2005 - "Our aim was to assess the safety and efficacy of primary and secondary implantation of a black diaphragm aniridia intraocular lens (IOL) in patients that lacked a complete iris diaphragm. " 09/01/2004 - "To evaluate the efficacy of a black diaphragm intraocular lens (IOL) implantation for congenital aniridia or traumatic iris deficiency and to explore the mechanism of postoperative complications. " 01/01/2003 - "To retrospectively review the safety and efficacy of black-diaphragm intraocular lenses (IOL) implanted for the treatment of post-traumatic aniridia. " 01/01/2000 - "To evaluate the safety and efficacy of the black diaphragm intraocular lens (IOL) implantation for the treatment of congenital and traumatic aniridia. " 08/01/2013 - "Amongst them are aniridia intraocular lenses (IOL), iris segment implants and the "artificial iris". "
2.	Transplantation (Transplant Recipients) 11/01/2003 - "Limbal transplantation and amniotic membrane implantation are needed for effective corneal surface reconstruction in patients with aniridia, which is followed by a significant improvement of the dry eye." 01/01/2015 - "Efficacy of cultivated oral mucosa epithelial transplantation (COMET) procedure in corneal epithelium restoration of aniridia patients. " 09/01/2005 - "To study the ocular surface evolution by impression cytology and limbal biopsy in patients with congenital aniridia treated with amniotic membrane transplantation (AMT). " 09/01/2005 - "[Moderate limbal deficiency in patients with congenital aniridia treated with amniotic membrane transplantation]." 11/01/2003 - "We also carried out amniotic membrane transplantation in patients with aniridia. "
3.	Vitrectomy 01/01/2000 - "The combined procedure of pars plana vitrectomy and scleral fixation of diaphragmatic lens is safe and effective in traumatic and congenital aniridia." 04/01/2009 - "The purpose of this paper is to report a series of GR patients undergoing combined pars plana vitrectomy (PPV) and artificial iris diaphragm (AID) implant for the repair of RD associated to aniridia. " 11/01/2003 - "To evaluate the efficacy of secondary black diaphragm intraocular lens (IOL) implantation in aphakic eyes with traumatic aniridia and previous pars plana vitrectomy (PPV). " 04/01/2012 - "A 30-year-old man, who had undergone previous pars plana vitrectomy, penetrating keratoplasty, and iris prosthetic lens implantation (Morcher Aniridia Implants 67G) for traumatic aniridia, underwent DSAEK for failed penetrating keratoplasty. " 11/01/2003 - "Black diaphragm intraocular lens implantation in aphakic eyes with traumatic aniridia and previous pars plana vitrectomy."
4.	Corneal Transplantation (Keratoplasty) 03/01/2003 - "Corneal transplantation in aniridia provided only a temporary improvement in VA in this family. " 01/01/2012 - "Descemet-stripping automated endothelial keratoplasty for vitrectomized cases with traumatic aniridia and aphakic bullous keratopathy." 08/01/2007 - "Fifteen adult patients (16 eyes) with aniridia who were deemed at high risk for regular donor corneal transplantation underwent a Boston type I keratoprosthesis procedure for visual rehabilitation. " 03/01/2003 - "To evaluate the visual prognosis in aniridia and the influence of keratoplasty in one large family. " 03/01/2003 - "The influence of keratoplasty on visual prognosis in aniridia: a historical review of one large family."
5.	Intraocular Lens Implantation 05/01/2015 - "Long-term efficacy and complications of black diaphragm intraocular lens implantation in patients with traumatic aniridia." 04/01/2014 - "Outcomes of scleral-sutured conventional and aniridia intraocular lens implantation performed in a university hospital setting." 04/01/2010 - "Long-term outcome of black diaphragm intraocular lens implantation in traumatic aniridia." 11/01/2009 - "Black diaphragm aniridia intraocular lens implantation may induce severe long-term complications. " 09/01/2004 - "The black diaphragm intraocular lens implantation provides an effective method in the treatment of congenital aniridia or traumatic iris deficiency. "