Axenfeld–Rieger Syndrome: Rare Case Presentation and Overview
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Maxillofacial and Oral Surgery"
DOI: 10.1007/s12663-019-01307-9
Abstract: Axenfeld–Rieger syndrome (ARS) is an extremely rare autosomal dominant disorder characterized by ocular, craniofacial, dental and periumbilical abnormalities. We present a case of a 10-year-old boy. Its awareness among oral surgeons is essential for timely… read more here.
Keywords: rare case; case presentation; rieger syndrome; syndrome rare ... See more keywords
Axenfeld-Rieger syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Journal francais d'ophtalmologie"
DOI: 10.1016/j.jfo.2017.10.010
Abstract: Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the… read more here.
Keywords: eye; rieger syndrome; axenfeld rieger;
Cardiac anomalies in Axenfeld-Rieger syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951122003857
Abstract: Axenfeld-Rieger syndrome is a rare multi-system disorder associated with cardiac anomalies. All patients with a diagnosis of Axenfeld-Rieger syndrome were identified from our electronic medical record. Chart review was performed to document the presence and… read more here.
Keywords: axenfeld rieger; anomalies axenfeld; rieger syndrome; cardiology ... See more keywords
Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Strabismus"
DOI: 10.1080/09273972.2021.1987926
Abstract: We describe a four-year-old girl with bilateral severe iris hypoplasia and secondary ocular hypertension. Genetic testing revealed a de novo deletion in the FOXC1 gene, establishing the diagnosis of Axenfeld-Rieger syndrome (ARS). The girl developed… read more here.
Keywords: muscle hypoplasia; extraocular muscle; rieger syndrome; axenfeld rieger ... See more keywords
The rare Axenfeld–Rieger syndrome with systemic anomalies
Sign Up to like & getrecommendations! Published in 2017 at "Medicine"
DOI: 10.1097/md.0000000000007791
Abstract: Rationale: Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. Patient concerns: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease… read more here.
Keywords: rieger syndrome; syndrome systemic; axenfeld rieger; systemic anomalies ... See more keywords
Case report of the rare Peters’ anomaly complicated with Axenfeld-Rieger syndrome
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DOI: 10.1097/md.0000000000021213
Abstract: Abstract Introduction: Peters’ anomaly (PA) and Axenfeld-Rieger syndrome (ARS) are typical classifications of anterior segment dysgenesis (ASD) and ascribed to congenital eye diseases that encompass developmental defects in anterior segment structures. The aim of this… read more here.
Keywords: axenfeld rieger; rieger syndrome; case report; eye ... See more keywords
Axenfeld–Rieger syndrome combined with ectropion uveae and pigment dispersion syndrome: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000032869
Abstract: Background: In January 2021, we found one case of Axenfeld–Rieger syndrome combined with pigment dispersion syndrome (PDS), and this patient additionally manifested a symptom of ectropion uveae. The co-existence of both 2 syndromes is very… read more here.
Keywords: axenfeld rieger; ectropion uveae; rieger syndrome; dispersion ... See more keywords
A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0840-9
Abstract: BackgroundAxenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes PITX2 and FOXC1 have been… read more here.
Keywords: exome sequencing; rieger syndrome; family; pitx2 gene ... See more keywords
Axenfeld–Rieger syndrome: ophthalmological and dental diagnostic and therapeutic options
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DOI: 10.1556/650.2021.31924
Abstract: Összefoglaló. Az Axenfeld-Rieger-szindróma ritka betegség. A közlemény bemutatja a klinikai megjelenési formáit, a diagnosztikus és terápiás lehetőségeket. A szemgolyó elülső szegmentumát érintő fejlődési rendellenességek vizsgálata a hagyományos biomikroszkópos vizsgálat mellett digitális kamerával is történhet, mely… read more here.
Keywords: therapeutic options; rieger syndrome; diagnostic therapeutic; axenfeld rieger ... See more keywords
Ocular hypertension in Axenfeld-Rieger Syndrome
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DOI: 10.22336/rjo.2020.70
Abstract: Purpose: to describe a clinical case of ocular hypertension (OHT) in Axenfeld-Rieger Syndrome (ARS). Method: Observational case report of a 43-year-old woman with background of OHT. The data was collected originally with a standardized electronic… read more here.
Keywords: rieger syndrome; ocular hypertension; ophthalmology; axenfeld rieger ... See more keywords
Heterogeneity of Axenfeld–Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients
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DOI: 10.3389/fgene.2021.732170
Abstract: Axenfeld–Rieger Syndrome (ARS) is a rare disease with a wide spectrum of ocular and systemic manifestations. The genetic spectrum of Chinese patients with ARS and genotype-phenotype correlations have yet to be described. To explore the… read more here.
Keywords: rieger syndrome; molecular clinical; systemic manifestations; axenfeld rieger ... See more keywords