Research & Literature

Axenfeld-Rieger syndrome: a case report.

Dunbar AC, McIntyre GT, Laverick S, Stevenson B

Journal of orthodontics 2015; (42(4)):324-30 doi:10.1179/1465313315Y.0000000017.

The 6p25 deletion syndrome: An update on a rare neurocristopathy.

de Vos IJ, Stegmann AP, Webers CA, Stumpel CT

Ophthalmic genetics 2017; (38(2)):101-107 doi:10.3109/13816810.2016.1164191.

Demographic and clinical characteristics of a paediatric low vision population in a low vision clinic in China.

Gao G, Yu M, Dai J, et al.

Clinical & experimental optometry 2016; (99(3)):274-9 doi:10.1111/cxo.12294.

Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.

Seifi M, Footz T, Taylor SA, Walter MA

Human mutation 2017; (38(2)):169-179 doi:10.1002/humu.23141.

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Souzeau E, Siggs OM, Zhou T, et al.

European journal of human genetics : EJHG 2017; (25(7)):839-847 doi:10.1038/ejhg.2017.59.

The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature.

Song W, Hu X

Medicine 2017; (96(33)):e7791 doi:10.1097/MD.0000000000007791.

PITX2 deficiency and associated human disease: insights from the zebrafish model.

Hendee KE, Sorokina EA, Muheisen SS, et al.

Human molecular genetics 2018; (27(10)):1675-1695 doi:10.1093/hmg/ddy074.

Relationship between neural crest cell specification and rare ocular diseases.

Akula M, Park JW, West-Mays JA

Journal of neuroscience research 2019; (97(1)):7-15 doi:10.1002/jnr.24245.

Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.

Wang X, Liu X, Huang L, et al.

Current eye research 2018; (43(11)):1334-1341 doi:10.1080/02713683.2018.1493129.

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

European journal of ophthalmology 2019; (29(4)):NP9-NP12 doi:10.1177/1120672118803515.

The Diverse Consequences of FOXC1 Deregulation in Cancer.

Gilding LN, Somervaille TCP

Cancers 2019; (11(2)) doi:10.3390/cancers11020184.

Rieger Syndrome: Rehabilitation With Dental Implants.

Pirih FQ, Casarin M, Perussolo J, et al.

Clinical advances in periodontics 2019; (9(4)):172-176 doi:10.1002/cap.10065.

Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome.

Zepeda EM, Branham K, Moroi SE, Bohnsack BL

BMC ophthalmology 2020; (20(1)):172 doi:10.1186/s12886-020-01417-w.

A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.

Kletke SN, Vincent A, Maynes JT, et al.

Ophthalmic genetics 2020; (41(4)):358-362 doi:10.1080/13816810.2020.1768556.

Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation.

Yamazaki H, Nakamura T, Hosono K, et al.

Auris, nasus, larynx 2021; (48(6)):1204-1208 doi:10.1016/j.anl.2020.07.006.

FOXC1 variant in a family with anterior segment dysgenesis and normal-tension glaucoma.

Or L, Barkana Y, Hecht I, et al.

Experimental eye research 2020; (200()):108220 doi:10.1016/j.exer.2020.108220.

Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.

Weigele J, Bohnsack BL

Journal of developmental biology 2020; (8(4)) doi:10.3390/jdb8040026.

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.

Souzeau E, Siggs OM, Pasutto F, et al.

American journal of medical genetics. Part A 2021; (185(2)):434-439 doi:10.1002/ajmg.a.61982.

Ocular hypertension in Axenfeld-Rieger Syndrome.

Espinosa-Barberi G, Galván González JF, Antón A

Romanian journal of ophthalmology 2020; (64(4)):455-458 doi:10.22336/rjo.2020.70.

Axenfeld–Rieger syndrome: ophthalmological and dental diagnostic and therapeutic options

Bausz M, Csidey M, Csákány B, et al.

Orvosi hetilap 2021; (162(5)):192-199 doi:10.1556/650.2021.31924.

Paediatric glaucoma in Hong Kong: a multicentre retrospective analysis of epidemiology, presentation, clinical interventions, and outcomes.

Baig NB, Chan JJ, Ho JC, et al.

Hong Kong medical journal = Xianggang yi xue za zhi 2021; (27(1)):18-26 doi:10.12809/hkmj208833.

Adjunctive orthodontic therapy for prosthetic rehabilitation in a growing child with Axenfeld-Rieger syndrome: A case report.

Siddiqui HP, Sennimalai K, Samrit VD, et al.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2021; (41(3)):423-430 doi:10.1111/scd.12579.

Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.

Gołaszewska K, Dub N, Saeed E, et al.

BMC ophthalmology 2021; (21(1)):154 doi:10.1186/s12886-021-01899-2.

Mechanistic Insights into Axenfeld-Rieger Syndrome from Zebrafish foxc1 and pitx2 Mutants.

French CR

International journal of molecular sciences 2021; (22(18)) doi:10.3390/ijms221810001.

Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome.

De Decker M, Cassiman C, Casteels I, et al.

Strabismus 2021; (29(4)):216-220 doi:10.1080/09273972.2021.1987926.

Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients.

Zhang Y, Chen X, Wang L, et al.

Frontiers in genetics 2021; (12()):732170 doi:10.3389/fgene.2021.732170.

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

Prem Senthil M, Knight LSW, Taranath D, et al.

Cornea 2022; (41(8)):1009-1015 doi:10.1097/ICO.0000000000003020.

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM, Maheshwari M, Capasso J, et al.

Journal of medical genetics 2023; (60(4)):368-379 doi:10.1136/jmg-2022-108646.

Dental and Craniofacial Manifestation of Axenfeld-Rieger Syndrome: A Case Report.

Badnaware S, Srivastava VK, Chandel M, et al.

Cureus 2022; (14(6)):e26442 doi:10.7759/cureus.26442.

Dental and Maxillofacial Manifestations of Axenfeld-Rieger Syndrome: Presentation of a Case in a 5-Year-Old Girl.

Ardila CM, Álvarez-Martínez E

Case reports in dentistry 2022; (2022()):4348264 doi:10.1155/2022/4348264.

Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome.

Feng J, Wang Y, Cheng S, et al.

Frontiers in cardiovascular medicine 2022; (9()):977432 doi:10.3389/fcvm.2022.977432.

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.

Zhou L, Wang X, An J, et al.

Experimental eye research 2023; (226()):109307 doi:10.1016/j.exer.2022.109307.

Cardiac anomalies in Axenfeld-Rieger syndrome.

Valikodath N, Johns JA, Godown J

Cardiology in the young 2023; (33(7)):1229-1231 doi:10.1017/S1047951122003857.

Axenfeld-Rieger syndrome: a novel histopathologic finding associated with corneal abnormalities.

Yu T, Dai Z, Peng R, et al.

BMC ophthalmology 2022; (22(1)):514 doi:10.1186/s12886-022-02754-8.

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives.

Michels K, Bohnsack BL

Clinical ophthalmology (Auckland, N.Z.) 2023; (17()):819-828 doi:10.2147/OPTH.S379853.

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.

Garza Flores A, Nordgren I, Pettersson M, et al.

Frontiers in genetics 2023; (14()):1174046 doi:10.3389/fgene.2023.1174046.

Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.

White S, Taranath A, Hanagandi P, et al.

AJNR. American journal of neuroradiology 2023; (44(10)):1231-1235 doi:10.3174/ajnr.A7995.

Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.

Reis LM, Amor DJ, Haddad RA, et al.

Genes 2023; (14(10)) doi:10.3390/genes14101948.

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

Farris J, Khanna C, Smadbeck JB, et al.

American journal of medical genetics. Part A 2024; (194(5)):e63542 doi:10.1002/ajmg.a.63542.

Approach to primary congenital glaucoma: A perspective.

Mandal AK, Chakrabarti D, Gothwal VK

Taiwan journal of ophthalmology 2023; (13(4)):451-460 doi:10.4103/tjo.TJO-D-23-00104.

In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.

Untaroiu A, Reis LM, Higgins BP, et al.

Investigative ophthalmology & visual science 2024; (65(4)):20 doi:10.1167/iovs.65.4.20.

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

Reis LM, Seese SE, Costakos D, Semina EV

Progress in retinal and eye research 2024; (102()):101288 doi:10.1016/j.preteyeres.2024.101288.

Main genetic entities associated with tooth agenesis.

Cammarata-Scalisi F, Willoughby CE, El-Feghaly JR, et al.

Clinical oral investigations 2024; (29(1)):9 doi:10.1007/s00784-024-05941-7.

19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.

Schuknecht A, Wachtl J, Baumer A, Kniestedt C

Klinische Monatsblatter fur Augenheilkunde 2025; (242(4)):332-338 doi:10.1055/a-2498-0245.

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus.

Mitchell LA, Schmidt J, Souzeau E, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.06.05.25327661.

Surgical Outcomes in Axenfeld-Rieger Syndrome: A Multicenter Retrospective Analysis.

Seresirikachorn K, Thiamthat W, Bitrian E, Chang TCP

American journal of ophthalmology 2026; (282()):120-127 doi:10.1016/j.ajo.2025.10.031.

Axenfeld-Rieger Syndrome: From Zebrafish Models to Clinical Outcomes.

Bohnsack BL, Williams AL, Jacobson A, et al.

American journal of ophthalmology 2026; (282()):225-252 doi:10.1016/j.ajo.2025.11.010.

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

Bremond-Gignac D, Daruich-Matet A, Robert MP, et al.

Journal francais d'ophtalmologie 2026; (49(2)):104736 doi:10.1016/j.jfo.2025.104736.

Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report.

Mourad A, Ward H, Lorenz N, et al.

Cureus 2025; (17(12)):e98380 doi:10.7759/cureus.98380.

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.

Mitchell LA, Schmidt J, Souzeau E, et al.

European journal of human genetics : EJHG 2026; (34(5)):727-731 doi:10.1038/s41431-026-02086-x.

Visual Outcomes and Associated Risk Factors for Blindness in Axenfeld-Rieger Syndrome.

Seresirikachorn K, Thiamthat W, Bitrian E, Chang TCP

American journal of ophthalmology 2026; (290()):9-16 doi:10.1016/j.ajo.2026.06.004.

Case Report: Novel FOXC1 variant c.311T>G (p.Ile104Ser) in a Chinese family with Axenfeld-Rieger syndrome.

Lin B, Li L, Li DK

Frontiers in medicine 2026; (13()):1868263 doi:10.3389/fmed.2026.1868263.

Efficacy of long-acting growth hormone in Axenfeld-Rieger syndrome with a novel 3.824 Mb 4q25 deletion: a Case Report and systematic literature review.

Guan S, Wang J, Liu Z, et al.

Frontiers in genetics 2026; (17()):1856235 doi:10.3389/fgene.2026.1856235.