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Isolated aniridia

MedGen UID:
978406
•Concept ID:
CN295308
•
Disease or Syndrome
Synonym: Nonsyndromic aniridia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Related genes: TRIM44, ELP4, WT1, PAX6
 
Monarch Initiative: MONDO:0007119
OMIM® Phenotypic series: PS106210
Orphanet: ORPHA250923

Definition

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. [from ORDO]

Professional guidelines

PubMed

Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.
Jiang Y, Li S, Xiao X, Sun W, Zhang Q
Invest Ophthalmol Vis Sci 2021 Aug 2;62(10):23. doi: 10.1167/iovs.62.10.23. PMID: 34415986Free PMC Article
The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype-Genotype Discordance.
Pedersen HR, Neitz M, Gilson SJ, Landsend ECS, Utheim ØA, Utheim TP, Baraas RC
Ophthalmol Retina 2019 Jun;3(6):523-534. Epub 2019 Feb 5 doi: 10.1016/j.oret.2019.01.020. PMID: 31174676Free PMC Article
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
Dubey SK, Mahalaxmi N, Vijayalakshmi P, Sundaresan P
Mol Vis 2015;21:88-97. Epub 2015 Jan 27 PMID: 25678763Free PMC Article

Recent clinical studies

Etiology

Novel variants in the PAX6 gene related to isolated aniridia.
Kuchalska K, Wawrocka A, Krawczynski MR
Congenit Anom (Kyoto) 2023 Jul;63(4):109-115. Epub 2023 May 16 doi: 10.1111/cga.12520. PMID: 37191119
Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.
Hanish AE, Han JC
Biol Res Nurs 2018 Mar;20(2):237-243. Epub 2018 Jan 17 doi: 10.1177/1099800417753670. PMID: 29343077Free PMC Article
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
Han JC, Thurm A, Golden Williams C, Joseph LA, Zein WM, Brooks BP, Butman JA, Brady SM, Fuhr SR, Hicks MD, Huey AE, Hanish AE, Danley KM, Raygada MJ, Rennert OM, Martinowich K, Sharp SJ, Tsao JW, Swedo SE
Cortex 2013 Nov-Dec;49(10):2700-10. Epub 2013 Feb 19 doi: 10.1016/j.cortex.2013.02.009. PMID: 23517654Free PMC Article
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.
Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M
J Clin Neurosci 2009 Dec;16(12):1610-4. Epub 2009 Sep 29 doi: 10.1016/j.jocn.2009.03.022. PMID: 19793656
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.
Crolla JA, Cawdery JE, Oley CA, Young ID, Gray J, Fantes J, van Heyningen V
J Med Genet 1997 Mar;34(3):207-12. doi: 10.1136/jmg.34.3.207. PMID: 9132491Free PMC Article

Diagnosis

Novel variants in the PAX6 gene related to isolated aniridia.
Kuchalska K, Wawrocka A, Krawczynski MR
Congenit Anom (Kyoto) 2023 Jul;63(4):109-115. Epub 2023 May 16 doi: 10.1111/cga.12520. PMID: 37191119
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
Wawrocka A, Walczak-Sztulpa J, Socha M, Kuszel L, Sowinska-Seidler A, Budny B, Bukowska-Olech E, Pilas-Pomykalska M, Jamsheer A, Krawczynski MR
Am J Med Genet A 2022 Feb;188(2):642-647. Epub 2021 Nov 12 doi: 10.1002/ajmg.a.62559. PMID: 34773354
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M
PLoS One 2017;12(2):e0172363. Epub 2017 Feb 23 doi: 10.1371/journal.pone.0172363. PMID: 28231309Free PMC Article
Guidelines for genetic study of aniridia.
Blanco-Kelly F, Villaverde-Montero C, Lorda-Sánchez I, Millán JM, Trujillo-Tiebas MJ, Ayuso C
Arch Soc Esp Oftalmol 2013 Apr;88(4):145-52. Epub 2012 Sep 25 doi: 10.1016/j.oftal.2012.07.006. PMID: 23597644
Aniridia: recent achievements in paediatric practice.
Ivanov I, Shuper A, Shohat M, Snir M, Weitz R
Eur J Pediatr 1995 Oct;154(10):795-800. doi: 10.1007/BF01959784. PMID: 8529675

Therapy

Isolated traumatic aniridia after trabeculectomy in a pseudophakic eye.
Kaliaperumal S, Troutbeck R, Iemsomboon W, Farinelli A
Indian J Ophthalmol 2014 Mar;62(3):371-2. doi: 10.4103/0301-4738.109515. PMID: 23571254Free PMC Article

Prognosis

Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.
Goh J, Wei H, Lai AHM, Chang B, Khan S, Syn Y, Jamuar SS, Tan EC
Clin Dysmorphol 2024 Apr 1;33(2):63-68. Epub 2024 Feb 28 doi: 10.1097/MCD.0000000000000487. PMID: 38441200
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement.
Torrefranca AB, Carmona SM, Santiago APD, Cutiongco-Dela Paz E, Lingao MD
Ophthalmic Genet 2023 Oct;44(5):501-504. Epub 2022 Nov 28 doi: 10.1080/13816810.2022.2144904. PMID: 36440799
A novel PAX6 mutation causes congenital aniridia with or without retinal detachment.
Mirrahimi M, Sabbaghi H, Ahmadieh H, Jahanmard M, Hassanpour K, Suri F
Ophthalmic Genet 2019 Apr;40(2):146-149. Epub 2019 Apr 15 doi: 10.1080/13816810.2019.1597374. PMID: 30985247
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.
Pérez-Solórzano S, Chacón-Camacho OF, Astiazarán MC, Ledesma-Gil G, Zenteno JC
Clin Exp Ophthalmol 2017 Dec;45(9):875-883. Epub 2017 Jun 15 doi: 10.1111/ceo.12982. PMID: 28488383
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.
Weisschuh N, Wissinger B, Gramer E
Mol Vis 2012;18:751-7. Epub 2012 Mar 29 PMID: 22509105Free PMC Article

Clinical prediction guides

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
Wawrocka A, Walczak-Sztulpa J, Socha M, Kuszel L, Sowinska-Seidler A, Budny B, Bukowska-Olech E, Pilas-Pomykalska M, Jamsheer A, Krawczynski MR
Am J Med Genet A 2022 Feb;188(2):642-647. Epub 2021 Nov 12 doi: 10.1002/ajmg.a.62559. PMID: 34773354
A novel PAX6 mutation causes congenital aniridia with or without retinal detachment.
Mirrahimi M, Sabbaghi H, Ahmadieh H, Jahanmard M, Hassanpour K, Suri F
Ophthalmic Genet 2019 Apr;40(2):146-149. Epub 2019 Apr 15 doi: 10.1080/13816810.2019.1597374. PMID: 30985247
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism.
Bai Z, Kong X
Mol Genet Genomic Med 2018 Nov;6(6):1053-1067. Epub 2018 Oct 17 doi: 10.1002/mgg3.481. PMID: 30334364Free PMC Article
Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency.
Hanish AE, Han JC
Biol Res Nurs 2018 Mar;20(2):237-243. Epub 2018 Jan 17 doi: 10.1177/1099800417753670. PMID: 29343077Free PMC Article
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
Han JC, Thurm A, Golden Williams C, Joseph LA, Zein WM, Brooks BP, Butman JA, Brady SM, Fuhr SR, Hicks MD, Huey AE, Hanish AE, Danley KM, Raygada MJ, Rennert OM, Martinowich K, Sharp SJ, Tsao JW, Swedo SE
Cortex 2013 Nov-Dec;49(10):2700-10. Epub 2013 Feb 19 doi: 10.1016/j.cortex.2013.02.009. PMID: 23517654Free PMC Article

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