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Axenfeld-Rieger syndrome

MedGen UID:
501192
•Concept ID:
C3495488
•
Disease or Syndrome
Synonyms: anomaly, Rieger's; Axenfeld syndrome; Axenfeldt-Rieger syndrome; goniodysgenesis hypodontia; Hagedoom syndrome; iridogoniodysgenesis with somatic anomalies; RGS - Rieger syndrome; Rieger syndrome; Rieger's anomaly
SNOMED CT: Axenfeld-Rieger syndrome (417604002); Axenfeld syndrome (417604002)
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019187
OMIM® Phenotypic series: PS180500
Orphanet: ORPHA782

Definition

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAxenfeld-Rieger syndrome

Professional guidelines

PubMed

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Zhou L, Wang X, An J, Zhang Y, He M, Tang L
Exp Eye Res 2023 Jan;226:109307. Epub 2022 Nov 25 doi: 10.1016/j.exer.2022.109307. PMID: 36442680
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang X, Liu X, Huang L, Fang S, Jia X, Xiao X, Li S, Guo X
Curr Eye Res 2018 Nov;43(11):1334-1341. Epub 2018 Jul 17 doi: 10.1080/02713683.2018.1493129. PMID: 29939776
Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment.
Nischal KK
Cornea 2015 Oct;34 Suppl 10:S24-34. doi: 10.1097/ICO.0000000000000552. PMID: 26352876

Recent clinical studies

Etiology

Mechanistic Insights into Axenfeld-Rieger Syndrome from Zebrafish foxc1 and pitx2 Mutants.
French CR
Int J Mol Sci 2021 Sep 16;22(18) doi: 10.3390/ijms221810001. PMID: 34576164Free PMC Article
Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.
Chrystal PW, Walter MA
Exp Eye Res 2019 Dec;189:107815. Epub 2019 Sep 24 doi: 10.1016/j.exer.2019.107815. PMID: 31560925
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Axenfeld-Rieger syndrome: new perspectives.
Chang TC, Summers CG, Schimmenti LA, Grajewski AL
Br J Ophthalmol 2012 Mar;96(3):318-22. Epub 2011 Dec 23 doi: 10.1136/bjophthalmol-2011-300801. PMID: 22199394

Diagnosis

Cardiac anomalies in Axenfeld-Rieger syndrome.
Valikodath N, Johns JA, Godown J
Cardiol Young 2023 Jul;33(7):1229-1231. Epub 2022 Dec 22 doi: 10.1017/S1047951122003857. PMID: 36543336
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV
J Med Genet 2023 Apr;60(4):368-379. Epub 2022 Jul 26 doi: 10.1136/jmg-2022-108646. PMID: 35882526Free PMC Article
Axenfeld-Rieger syndrome.
Bengarai W, Chokrani H, Berraho A
J Fr Ophtalmol 2018 May;41(5):470-471. Epub 2018 May 21 doi: 10.1016/j.jfo.2017.10.010. PMID: 29793789
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Therapy

Sterile keratitis after uneventful corneal collagen cross-linking in a patient with Axenfeld-Rieger syndrome.
Uysal BS, Yaman D, Sarac O, Akcay E, Cagil N
Int Ophthalmol 2019 May;39(5):1169-1173. Epub 2018 Mar 28 doi: 10.1007/s10792-018-0907-1. PMID: 29594793
Congenital hypothyroidism in Rieger Syndrome.
Örnek N, Oğurel R, Örnek K
Ophthalmic Genet 2016;37(1):86-8. Epub 2014 Mar 25 doi: 10.3109/13816810.2014.902079. PMID: 24666291
Unusual presentation in Axenfeld-Rieger syndrome.
Parikh RS, Parikh SR, Debashish B, Harsha BL, Thomas R
Indian J Ophthalmol 2011 Jul-Aug;59(4):312-4. doi: 10.4103/0301-4738.82003. PMID: 21666320Free PMC Article
Axenfeld-Rieger syndrome (ARS): A review and case report.
Waldron JM, McNamara C, Hewson AR, McNamara CM
Spec Care Dentist 2010 Sep-Oct;30(5):218-22. Epub 2010 Aug 17 doi: 10.1111/j.1754-4505.2010.00153.x. PMID: 20831741
Anomalous scleral insertion of superior oblique in Axenfeld-Rieger syndrome.
Park SW, Kim HG, Heo H, Park YG
Korean J Ophthalmol 2009 Mar;23(1):62-4. Epub 2009 Mar 9 doi: 10.3341/kjo.2009.23.1.62. PMID: 19337485Free PMC Article

Prognosis

Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome.
Zepeda EM, Branham K, Moroi SE, Bohnsack BL
BMC Ophthalmol 2020 May 1;20(1):172. doi: 10.1186/s12886-020-01417-w. PMID: 32357855Free PMC Article
Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis.
Fan Z, Sun S, Liu H, Yu M, Liu Z, Wong SW, Liu Y, Han D, Feng H
Oral Dis 2019 Nov;25(8):2010-2019. Epub 2019 Oct 8 doi: 10.1111/odi.13196. PMID: 31529555
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang X, Liu X, Huang L, Fang S, Jia X, Xiao X, Li S, Guo X
Curr Eye Res 2018 Nov;43(11):1334-1341. Epub 2018 Jul 17 doi: 10.1080/02713683.2018.1493129. PMID: 29939776
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Axenfeld-Rieger syndrome (ARS): A review and case report.
Waldron JM, McNamara C, Hewson AR, McNamara CM
Spec Care Dentist 2010 Sep-Oct;30(5):218-22. Epub 2010 Aug 17 doi: 10.1111/j.1754-4505.2010.00153.x. PMID: 20831741

Clinical prediction guides

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Zhou L, Wang X, An J, Zhang Y, He M, Tang L
Exp Eye Res 2023 Jan;226:109307. Epub 2022 Nov 25 doi: 10.1016/j.exer.2022.109307. PMID: 36442680
Ocular hypertension in Axenfeld-Rieger Syndrome.
Espinosa-Barberi G, Galván González JF, Antón A
Rom J Ophthalmol 2020 Oct-Dec;64(4):455-458. doi: 10.22336/rjo.2020.70. PMID: 33367186Free PMC Article
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Axenfeld-Rieger syndrome: report on dental and craniofacial findings.
Jena AK, Kharbanda OP
J Clin Pediatr Dent 2005 Fall;30(1):83-8. doi: 10.17796/jcpd.30.1.v1732398454r0244. PMID: 16302606
Axenfeld-Rieger syndrome. A spectrum of developmental disorders.
Shields MB, Buckley E, Klintworth GK, Thresher R
Surv Ophthalmol 1985 May-Jun;29(6):387-409. doi: 10.1016/0039-6257(85)90205-x. PMID: 3892740

Recent systematic reviews

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
Le H, Jin E, Jewell A, Jackson-Cook C, Haskell GT, Couser N
Am J Med Genet A 2023 Jun;191(6):1639-1645. Epub 2023 Mar 20 doi: 10.1002/ajmg.a.63186. PMID: 36941760
Sella turcica morphology in patients with genetic syndromes: A systematic review.
Roomaney IA, Chetty M
Orthod Craniofac Res 2021 May;24(2):194-205. Epub 2020 Sep 28 doi: 10.1111/ocr.12426. PMID: 32920986

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