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Axenfeld-Rieger syndrome

MedGen UID:
501192
•Concept ID:
C3495488
•
Disease or Syndrome
Synonyms: Iridogoniodysgenesis with somatic anomalies; Rieger syndrome
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

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
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
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

Diagnosis

Axenfeld-Rieger anomaly with slit pupils.
Shakrawal J, Bhatnagar KR, Agarwal N
J Fr Ophtalmol 2023 Sep;46(7):829-830. Epub 2023 May 22 doi: 10.1016/j.jfo.2022.12.033. PMID: 37225607
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

Improvement of Open Bite and Stomatognathic Function in an Axenfeld- Rieger Syndrome Patient by Orthodontic Sectional Arch Mechanics: Clinical Considerations and the Risk of Orthodontic Tooth Movement.
Seki D, Takeshita N, Seiryu M, Deguchi T, Takano-Yamamoto T
Acta Med Okayama 2019 Jun;73(3):255-262. doi: 10.18926/AMO/56869. PMID: 31235974
Treatment of chronic and extreme ocular hypotension following glaucoma surgery with intraocular platelet-rich plasma: A case report.
Abdalrahman O, Rodriguez AE, Alio Del Barrio JL, Alio JL
Eur J Ophthalmol 2019 Jul;29(4):NP9-NP12. Epub 2018 Oct 7 doi: 10.1177/1120672118803515. PMID: 30295074
Headache and Eye Pain in a Patient With Unusual Facial Morphology.
Frings A, Schargus M
Dtsch Arztebl Int 2018 Feb 16;115(7):116. doi: 10.3238/arztebl.2018.0116a. PMID: 29510829Free PMC Article
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
Methemoglobinemia in a newborn: a case report.
Bayat A, Kosinski RW
Pediatr Dent 2011 May-Jun;33(3):252-4. PMID: 21703079

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
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
Achondroplasia With Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly.
Nastasi S, Gonzalez A, Blake CR, Beck A, Agarwal-Sinha S
J Glaucoma 2018 Oct;27(10):e165-e167. doi: 10.1097/IJG.0000000000001046. PMID: 30095606
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
Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients.
Ito YA, Goping IS, Berry F, Walter MA
Cell Death Dis 2014 Feb 20;5(2):e1069. doi: 10.1038/cddis.2014.8. PMID: 24556684Free PMC Article

Clinical prediction guides

Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.
White S, Taranath A, Hanagandi P, Taranath DA, To MS, Souzeau E, Siggs OM, Craig JE
AJNR Am J Neuroradiol 2023 Oct;44(10):1231-1235. Epub 2023 Sep 7 doi: 10.3174/ajnr.A7995. PMID: 37679021Free PMC Article
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
Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome.
De Decker M, Cassiman C, Casteels I, Devriendt K, Delbeke P
Strabismus 2021 Dec;29(4):216-220. Epub 2021 Oct 28 doi: 10.1080/09273972.2021.1987926. PMID: 34709103
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

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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