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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
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
Clinical utility gene card for: Axenfeld-Rieger syndrome.
Weisschuh N, De Baere E, Wissinger B, Tümer Z
Eur J Hum Genet 2011 Mar;19(3) Epub 2010 Oct 13 doi: 10.1038/ejhg.2010.163. PMID: 20940740Free PMC Article

Recent clinical studies

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
Retrospective cohort study of 163 pediatric glaucoma patients.
Bussières JF, Therrien R, Hamel P, Barret P, Prot-Labarthe S
Can J Ophthalmol 2009 Jun;44(3):323-7. doi: 10.3129/i09-065. PMID: 19491991

Prognosis

Whole genome sequencing in families with oligodontia.
Mitscherling J, Sczakiel HL, Kiskemper-Nestorjuk O, Winterhalter S, Mundlos S, Bartzela T, Mensah MA
Oral Dis 2024 Sep;30(6):3935-3950. Epub 2023 Dec 9 doi: 10.1111/odi.14816. PMID: 38071191
Case report of the rare Peters' anomaly complicated with Axenfeld-Rieger syndrome: A case report and brief review of the literature.
Meng Y, Lu G, Xie Y, Sun X, Huang L
Medicine (Baltimore) 2022 Jan 14;101(2):e21213. doi: 10.1097/MD.0000000000021213. PMID: 35029171Free PMC Article
A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.
Yang HJ, Lee YK, Joo CK, Moon JI, Mok JW, Park MH
Korean J Ophthalmol 2015 Aug;29(4):249-55. Epub 2015 Jul 21 doi: 10.3341/kjo.2015.29.4.249. PMID: 26240509Free 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 (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

Whole genome sequencing in families with oligodontia.
Mitscherling J, Sczakiel HL, Kiskemper-Nestorjuk O, Winterhalter S, Mundlos S, Bartzela T, Mensah MA
Oral Dis 2024 Sep;30(6):3935-3950. Epub 2023 Dec 9 doi: 10.1111/odi.14816. PMID: 38071191
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
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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    • ClinVar
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      Clinical tests in GTR
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