Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome

Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated vertical deviation (DVD), and severe superior oblique overaction (SOOA). During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS.

• Publication year

  2009

• Venue

  Korean Journal of Ophthalmology

• Publication date

  2009-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.3341/kjo.2009.23.1.62PMID 19337485PMCID 2655743
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Extraocular muscle morphogenesis and gene expression are regulated by Pitx2 gene dose.

  2006cited by this paper
• Axenfeld-Rieger syndrome in the age of molecular genetics.

  2000influential reference
• Rieger syndrome: a clinical, molecular, and biochemical analysis

  2000cited by this paper
• Anomalies associated with Axenfeld-Rieger syndrome

  1999influential reference
• Mouse Pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra- and periocular mesoderm and right pulmonary isomerism.

  1999cited by this paper
• Ocular malformations and developmental genes.

  1998cited by this paper

• DIAGNOSIS AND TREATMENT OF AXENFELD-RIEGER SYNDROME

  2025cites this paper
• Case report of the rare Peters’ anomaly complicated with Axenfeld-Rieger syndrome

  2022cites this paper
• Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome

  2021cites this paper
• Axenfeld‐Rieger syndrome combined with a foveal anomaly in a three‐generation family: a case report

  2021cites this paper
• Connecting muscle development, birth defects, and evolution: An essential role for muscle connective tissue.

  2019cites this paper
• The rare Axenfeld–Rieger syndrome with systemic anomalies

  2017cites this paper
• Anterior Segment Dysgenesis Syndromes

  2016cites this paper
• Síndrome de Axenfeld-Rieger: Hallazgos clínicos, ecográficos y en ultrabiomicroscopia

  2015cites this paper
• Indications for a systemic work-up in glaucoma.

  2014cites this paper
• Disorders that cause neovascular glaucoma Systemic vascular diseases Carotid occlusive disease Carotid cavernous fistula Giant cell arteritis Takayasu disease Ocular vascular diseases Diabetic retinopathy Central retinal vein occlusion Central retinal artery occlusion Branch retinal vein occlusion B

  2014cites this paper
• An interesting case of bilateral bifid insertion of superior rectus muscle as an intra-operative finding in a patient with oculocutaneous albinism

  2014cites this paper
• Pediatric genetic diseases causing glaucoma

  2014cites this paper
• Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome

  2013cites this paper
• Unilateral inferior rectus hypoplasia in a child with Axenfeld-Rieger syndrome.

  2012cites this paper
• Axenfeld-Rieger syndrome: new perspectives

  2011cites this paper