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.

Also Known As:

Networked: 470 relevant articles (19 outcomes, 42 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Cataract (Cataracts)
2.	Aphakia
3.	Glaucoma
4.	Dry Eye Syndromes (Dry Eye Syndrome)
5.	Blindness (Hysterical Blindness)

Experts

1.	Lagali, Neil: 8 articles (01/2022 - 08/2013)
2.	Käsmann-Kellner, Barbara: 6 articles (01/2022 - 01/2018)
3.	Latta, Lorenz: 6 articles (01/2022 - 01/2018)
4.	Seitz, Berthold: 6 articles (01/2022 - 01/2018)
5.	Baraas, Rigmor C: 6 articles (11/2020 - 01/2018)
6.	Khoramnia, Ramin: 5 articles (01/2022 - 01/2020)
7.	Landsend, Erlend C S: 5 articles (11/2020 - 01/2018)
8.	Pedersen, Hilde R: 5 articles (11/2020 - 01/2018)
9.	Utheim, Tor Paaske: 5 articles (01/2020 - 08/2013)
10.	Mayer, Christian S: 4 articles (01/2022 - 01/2020)

Drugs and Biologics

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

1.	Proteins (Proteins, Gene)FDA Link 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." 06/12/2020 - "To enable the Pax6 small eye (Sey) mouse model of aniridia, which carries the same mutation found in patients, for preclinical testing of CRISPR-based therapeutic approaches, we endogenously tagged the Sey allele, allowing for the differential detection of protein from each allele. " 12/06/2013 - "Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia." 09/08/2008 - "These mutations produce primarily protein truncations and have been identified in approximately 40%-80% of all aniridia cases worldwide. " 09/01/2007 - "Predicted premature protein truncations are generally associated with classical aniridia. "
2.	Retinaldehyde (Retinal)IBA 01/01/2023 - "Overall, lack of adverse events and successful transduction of LSCs and retinal cells makes it clear that rAAV9 is the capsid of choice for future aniridia gene therapy. " 01/01/2023 - "The results show that both rod- and cone-related functions are affected in PAX6-related aniridia and suggest that retinal anatomical and physiological changes extend beyond the area commonly studied in this condition: the central macula." 01/01/2023 - "A multiple regression model indicated that foveal outer retinal layer thickness and age were the main explanatory variables to predict both final cone and rod thresholds in aniridia when the AAK grade was 2 or less. " 01/01/2023 - "In aniridia, foveal outer retinal layer thickness correlated with both final cone and rod thresholds. " 01/01/2023 - "The thicknesses of macular inner and outer retinal layers were obtained from optical coherence tomography images in 20 patients with aniridia and the 38 healthy controls. "
3.	DNA (Deoxyribonucleic Acid)IBA 05/01/2023 - "The variant has been described in aniridia patients before and has been shown to cause a weaker DNA binding using functional studies. " 01/01/2022 - "With the arrival of DNA sequencing, aniridia can be genetically classified. " 10/01/2012 - "Total genomic DNA was isolated from peripheral blood of two aniridia patients. " 01/01/2012 - "The p.Asn173His variant affects Helix 2 of the DNA-binding domain and was observed in two unrelated patients with Peters anomaly or aniridia; in both cases, one parent carried the same allele. " 01/01/2012 - "Genomic DNA was isolated from peripheral blood leukocytes of 22 aniridia patients in 18 unrelated families. "
4.	Mydriatics (Cycloplegics)IBA 11/01/2021 - "Furthermore, it allows us to anticipate possible visual results in clinical trials with healthy patients (after application of mydriatic agents) and in patients with aniridia. " 02/21/2021 - "Furthermore, it allows us to anticipate possible visual results in clinical trials with healthy patients (after application of mydriatic agents) and in patients with aniridia. "
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.	Capsules (Microcapsules)IBA 11/01/2013 - "The new model shows good self centration and enables sutureless implantation in patients with aniridia if lens capsule or other supporting structures of the anterior chamber are present. " 05/01/2013 - "Presented model is good in self-centration, allows sutureless fixation in lens capsule or the other supporting structures in aniridia." 05/01/2013 - "Both glued aniridia IOL and glued IOL/iridoplasty showed good functional and anatomical results with fewer complications in eyes with lens capsule and iris deficiency. " 01/01/2012 - "Although it may be desirable for vitrectomized cases with aniridia and aphakic bullous keratopathy without capsule support to undergo DSAEK, one of the major problems is lenticule detachment during surgery or in the postoperative period. " 01/01/2010 - "The lens capsule may be altered - thinned - in aniridia, requiring particular attention in order to avoid complications with possible consequences for the surgical plan. "
7.	SiliconesIBA 01/01/2020 - "In this study, 82 eyes of 79 consecutive patients with mostly traumatic partial or total aniridia that underwent iris reconstruction surgery using a custom-made silicone AI (HumanOptics, Erlangen, Germany). " 11/01/2021 - "To evaluate a customized silicone flexible artificial iris in cases of aniridia or iris deficiencies. " 11/01/2021 - "Flexible silicone artificial iris in cases of aniridia and iris deficiencies." 01/01/1989 - "In cases with aniridia, with closed inferior basal iridectomy (IBI) or without IBI, keratopathy was found in 74 of the 166 eyes (45%) injected with silicone SF96 and in 14 of the 30 eyes (47%) injected with silicone OP 1000. " 02/01/2016 - "Tight suturing of the IOL haptic eyelets on the silicone iris prosthesis and fixation of such a complex to the scleral wall may provide excellent cosmetic and functional outcomes in aphakic eyes with aniridia. "
8.	Messenger RNA (mRNA)IBA 06/01/2017 - "The PAX6 mRNA significantly lower in patients with aniridia than in unaffected family members in both families, suggesting that the duplication and splice site deletion caused nonsense-mediated mRNA decay.ConclusionsOur study identified two novel PAX6 variants in two families with aniridia and revealed the pathogenicity of the variants; this would expand the variant spectrum of PAX6 and help us better understand the molecular basis of aniridia, thus facilitating genetic counseling." 01/01/2019 - "ALDH1A1 and AHD7 mRNA levels were reduced in limbal epithelial cells of aniridia patients, and both transcripts were downregulated by PAX6 knockdown in our cell model. " 01/01/2019 - "First, we sequenced mRNA from limbal epithelial cells isolated from controls and aniridia patients. " 05/25/2015 - "The PAX6 mRNA level was about 50% lower in patients with aniridia than in unaffected family members, indicating that this mutation caused nonsense-mediated mRNA decay. " 01/01/2021 - "Strong dysregulation of key factors at the miRNA and mRNA level suggests that the conjunctiva in aniridia is abnormally maintained in a pro-angiogenic and proliferative state, and these changes are expressed in a PAX6 mutation-dependent manner. "
9.	EnzymesIBA 05/01/1984 - "Aniridia: enzyme studies in an 11p--chromosomal deletion." 06/01/1986 - "We describe a catalase RFLP with two different enzymes and use these polymorphisms to exclude deletion of the catalase gene in patients with sporadic aniridia, including one who is known to have a deletion and another suspected of having a deletion." 03/01/1980 - "Maximum likelihood analysis for linkage between autosomal dominant aniridia and 12 biochemical and serological markers in a single large family showed a probable linkage between autosomal dominant aniridia and the enzyme acid phosphatase-1. " 04/01/1982 - "Two patients with Wilms tumor, iris dysplasia (complete aniridia in one and subtle iris defects in the other), normal karyotypes, and no gene loss demonstrable by enzyme marker and direct DNA analyses are presented. "
10.	3' Untranslated Regions (3' UTR)IBA 12/07/2018 - "Protecting Pax6 3' UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model." 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. " 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. "

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. " 09/01/2021 - "This case demonstrates a promising proof-of-concept for long-term management of complicated aniridia cases using an intraocular lens and artificial iris complex prosthetic iris devices. "
2.	Therapeutics 06/16/2017 - "Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia." 08/01/2023 - "Furthermore, we laid the foundation for translation of the proposed CRISPR therapy to preclinical mouse studies and eventually patients with aniridia." 12/01/2022 - "This review outlines the main aniridia-related animal and cellular models used to study aniridia and highlights the key discoveries that are bringing us closer to a therapy for patients." 10/18/2023 - "At the Homburg Aniridia Centre, patients using topical antiglaucomatous quadruple therapy or who had previously undergone antiglaucomatous surgery had by far the highest AAK stage. " 08/01/2023 - "Thus, we hypothesized that a CRISPR gene therapy can be developed and optimized in humanized mouse embryonic stem cells (ESCs) that will be able to distinguish between an aniridia patient variant and nonvariant chromosome and lay the foundation for human therapy. "
3.	Transplantation 01/01/2015 - "Efficacy of cultivated oral mucosa epithelial transplantation (COMET) procedure in corneal epithelium restoration of aniridia patients. " 03/01/2023 - "The purpose of this study is to study the frequency, surgical transplantation technique and outcome in patients with aniridia-related keratopathy (ARK) with two-year follow-up period. " 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). " 01/01/2022 - "In conclusion, endothelial transplantation in a patient with aniridia resulted in improvement of all the corneal structures from the endothelium to the stroma, epithelium, and possibly even the ocular surface." 09/01/2005 - "[Moderate limbal deficiency in patients with congenital aniridia treated with amniotic membrane transplantation]."
4.	Prostheses and Implants (Prosthesis) 06/01/2020 - "The custom-made iris prosthesis was an effective and safe option to reduce photic symptoms in patients with congenital aniridia. " 07/01/2005 - "In all our patients with aniridia, iris artificial prostheses improved VA and diminished visual discomfort. " 01/01/2023 - "Although the aniridia symptoms were successfully addressed by the implantation of a foldable artificial iris (Iris Prosthesis: Ophtec [formerly Reper], Groningen, the Netherlands), the procedure subsequently caused endothelial damage. " 06/01/2020 - "The charts of all eyes of patients diagnosed with congenital aniridia syndrome who underwent implantation of the custom-made iris prosthesis at the setting institution between 2008 and 2018 were reviewed. " 01/01/2020 - "Aniridia treatment using a custom-made artificial iris prosthesis offers a good aesthetic outcome. "
5.	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. " 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. " 09/01/2002 - "The management of traumatic aniridia using pars plana vitrectomy and implantation of scleral fixation black diaphragm intraocular lenses seem to be safe. " 09/01/2002 - "Six patients, 4 men and 2 women with a mean age of 44 years, were treated for traumatic aniridia using pars plana vitrectomy and transscleral fixation of a black diaphragm intraocular lens. "