Axenfeld–Rieger syndrome
| Axenfeld–Rieger syndrome | |
|---|---|
| Other names | Axenfeld syndrome, Hagedoom syndrome |
| a) Microdontia and hypodontia. b) Slit pupil and iris atrophy right eye. c) Corectopia with iris atrophy left eye. d) Posterior embryotoxon right eye. e) Posterior embryotoxon left eye. f) Broad peripheral anterior synechiae right eye.[1] | |
| Specialty | Medical genetics |
Axenfeld–Rieger syndrome is a rare autosomal dominant[2] disorder, which affects the development of the teeth, eyes, and abdominal region.[3]
Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes,[4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis. Although the exact classification of this set of signs and symptoms is somewhat confusing in current scientific literature, most authors agree with the classification cited here. Axenfeld Anomaly is known as the development of a posterior embryotoxon, associated with strands of the iris adhered to a Schwalbe line that has been displaced anteriorly,[5] which when added to glaucoma is called Axenfeld Syndrome. Rieger's Anomaly is defined by a universe of congenital anomalies of the iris, such as iris hypoplasia, corectopia or polycoria.[6] When systemic findings are added to Rieger's anomaly, such as bone, facial and/or dental defects, it is known as Rieger syndrome. The combination of both entities gives rise to the Axenfeld-Rieger Anomaly when there are no systemic abnormalities and Axenfeld-Rieger Syndrome when there are.[7]
Axenfeld-Rieger Syndrome is a rare disease that affects the eye bilaterally, with an estimated prevalence of 1/200,000 people, without gender predilection, and is characterized by autosomal dominant inheritance with complete penetrance of variable expressivity. The genes that have been identified in approximately 50% of cases are PITX2 and FOXC1.[8][9][10] Given the important hereditary factor, it is important to evaluate the most direct members of the family.
To explain the ocular alterations, there is a theory of the mechanism postulated by Shields et al.,[7] which implies an arrest in the migration of neural crest cells towards the third trimester of gestation, which leads to the persistence of primordial endothelial tissue in the iris and anterior chamber angle. Contraction of these membranes after birth leads to the progressive changes seen in some patients. This primordial endothelium also generates an excessive and atypical basement membrane, especially near the limbal corneal junction, which accounts for the prominent Schwalbe line. In the case of secondary glaucoma, it would be the consequence of dysgenesis in the chamber sinus.
- ^ Dhir, L; Frimpong-Ansah, K; Habib, Nabil E (2008). "Missed case of Axenfeld-Rieger syndrome: a case report". Cases Journal. 1 (1): 299. doi:10.1186/1757-1626-1-299. PMC 2585579. PMID 18990239.
- ^ Vieira, Véronique; David, Gabriel; Roche, Olivier; de la Houssaye, Guillaume; Boutboul, Sandrine; Arbogast, Laurence; Kobetz, Alexandra; Orssaud, Christophe; Camand, Olivier; Schorderet, Daniel F.; Munier, Francis; Rossi, Annick; Delezoide, Anne Lise; Marsac, Cécile; Ricquier, Daniel; Dufier, Jean-Louis; Menasche, Maurice; Abitbol, M. (2006). "Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome". Molecular Vision. 12: 1448–60. PMID 17167399. Archived from the original on 2020-07-14. Retrieved 2008-08-28.
- ^ Fitch, Naomi; Kaback, Martin (1978). "The Axenfeld syndrome and the Rieger syndrome". Journal of Medical Genetics. 15 (1): 30–4. doi:10.1136/jmg.15.1.30. PMC 1012820. PMID 416212.
- ^ Stahl, E. D. (2014). Anterior Segment Dysgenesis. International Ophthalmology Clinics, 54(3), 95–104.
- ^ Cite error: The named reference
Axenfeld1920was invoked but never defined (see the help page). - ^ Rieger H. Contributions to the knowledge of rare malformations of the iris II: hypoplasia of the iris stroma with dislocation and irregularity of the pupil. Albrecht von Graefes arch klin exp ophthalmol. 1935;133:602–635.
- ^ a b Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc. 1983;81:736-84.
- ^ Mears AJ, Jordan T, Mirzayans F, et al. Mutaciones del gen forkhead / winged-helix, FKHL7, en pacientes con anomalía de Axenfeld-Rieger. Soy J Hum Genet. 1998; 63 : 1316-1328.
- ^ Nishimura DY, Swiderski RE, Alward WL, et al. El gen del factor de transcripción forkhead FKHL7 es responsable de los fenotipos de glaucoma que se asignan a 6p25. Nat Genet. 1998; 19 : 140-147.
- ^ Semina EV, Reiter R, Leysens NJ, et al. Clonación y caracterización de un nuevo gen del factor de transcripción homeobox relacionado con bicoides, RIEG, implicado en el síndrome de Rieger. Nat Genet. 1996; 14 : 392–399.