Axenfeld-Rieger syndrome

Axenfeld syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region. Axenfeld syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region. The molecular genetics of Axenfeld syndrome are poorly understood, but center on three genes identified by cloning of chromosomal breakpoints from patients. This disorder is inheritable as an autosomal dominant trait, which means the defective gene is located on an autosome, and only one copy of the gene is sufficient to cause the disorder when inherited from a parent who has the disorder. As shown in the diagram, this gives a 50/50 chance of offspring inheriting the condition from an affected parent. Although most recognized for its correlation with the onset of glaucoma, the malformation is not limited to the eye, as Axenfeld syndrome when associated with the PITX2 genetic mutation usually presents congenital malformations of the face, teeth, and skeletal system. The most characteristic feature affecting the eye is a distinct corneal posterior arcuate ring, known as an 'embryotoxon'. The iris is commonly adherent to the Schwalbe's line (posterior surface of the cornea). DiagnosisOne of the three known genetic mutations which cause Rieger Syndrome can be identified through genetic samples analysis. About 40% of Axenfeld-Rieger sufferers have displayed mutations in genes PITX2, FOXC1, and PAX6. The difference between Type 1, 2, and 3 Axenfeld Syndrome is the genetic cause, all three types display the same symptoms and abnormalities. The OMIM classification is as follows: Detection of any of these mutations can give patients a clear diagnosis and prenatal procedures such as preimplantation genetic diagnosis, Chorionic villus sampling and Amniocentesis can be offered to patients and prospective parents. It is named after the German ophthalmologist Theodor Axenfeld who studied anterior segment disorders, especially those such as Rieger Syndrome and the Axenfeld Anomaly.