PURPOSE: Axenfeld-Rieger syndrome is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies. This study presents various clinical manifestations of Axenfeld-Rieger syndrome within one family. MATERIAL AND METHODS: Three members of the family: patient 1--father (54 years old), patient 2--son (31 years old), and patient 3--daughter (30 years old), underwent complete ophthalmic examination, including standard glaucoma diagnostics. Additional investigations, such as: ultrasound biomicroscopy (UBM, Opticon 2000), corneal topography Orbscan II (Bausch & Lomb, Inc., Rochester, N.Y., USA), corneal confocal microscopy ConfoScan 3 (Nidek Technologies), central corneal thickness measurements with optical low-coherence reflectometer (OLCR, pachymeter Haag-Streit), were carried out. It was impossible to perform complete eye examination in one case (patient 1) because of severity of ocular changes. RESULTS: All family members described had iris abnormalities (hypoplastic iris stroma) and early-onset glaucoma, however severity of symptoms were different in each case. The most advanced disease was recognized in patient 1. Other findings included: posterior embryotoxon (patients 2 and 3), iridocorneal angle abnormalities (patients 2 and 3), microcornea (patient 2) and extraocular features (patients 1 and 2): dental anomalies (microdontia and hypodontia), maxillary hypoplasia and periumbilical skin fold. All of these symptoms supported the diagnosis of Axenfeld-Rieger syndrome. In addition, we also diagnosed keratoconus in patient 2 and hypermetropia, strabismus and corneal scar in patient 3. CONCLUSIONS: Reported cases of Axenfeld-Rieger syndrome demonstrate phenotypic variability of the disease among family members, which is characteristic for this disorder and can cause diagnostic problems.
PURPOSE:Axenfeld-Rieger syndrome is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies. This study presents various clinical manifestations of Axenfeld-Rieger syndrome within one family. MATERIAL AND METHODS: Three members of the family: patient 1--father (54 years old), patient 2--son (31 years old), and patient 3--daughter (30 years old), underwent complete ophthalmic examination, including standard glaucoma diagnostics. Additional investigations, such as: ultrasound biomicroscopy (UBM, Opticon 2000), corneal topography Orbscan II (Bausch & Lomb, Inc., Rochester, N.Y., USA), corneal confocal microscopy ConfoScan 3 (Nidek Technologies), central corneal thickness measurements with optical low-coherence reflectometer (OLCR, pachymeter Haag-Streit), were carried out. It was impossible to perform complete eye examination in one case (patient 1) because of severity of ocular changes. RESULTS: All family members described had iris abnormalities (hypoplastic iris stroma) and early-onset glaucoma, however severity of symptoms were different in each case. The most advanced disease was recognized in patient 1. Other findings included: posterior embryotoxon (patients 2 and 3), iridocorneal angle abnormalities (patients 2 and 3), microcornea (patient 2) and extraocular features (patients 1 and 2): dental anomalies (microdontia and hypodontia), maxillary hypoplasia and periumbilical skin fold. All of these symptoms supported the diagnosis of Axenfeld-Rieger syndrome. In addition, we also diagnosed keratoconus in patient 2 and hypermetropia, strabismus and corneal scar in patient 3. CONCLUSIONS: Reported cases of Axenfeld-Rieger syndrome demonstrate phenotypic variability of the disease among family members, which is characteristic for this disorder and can cause diagnostic problems.
Authors: Valeria Lo Faro; Sorath N Siddiqui; Muhammad I Khan; Cristina Villanueva-Mendoza; Vianney Cortés-González; Nomdo Jansonius; Arthur A B Bergen; Shazia Micheal Journal: Mol Genet Genomic Med Date: 2020-05-13 Impact factor: 2.183