Variability of clinical manifestations in the family with Axenfeld–Rieger syndrome

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.