Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities

Clinical Features

The Axenfeld-Rieger group of anomalies includes Axenfeld anomaly (defects limited to the peripheral anterior segment of the eye), Rieger anomaly (peripheral abnormalities of the anterior segment with additional changes in the iris), and Axenfeld-Rieger syndrome (eye abnormalities plus nonocular developmental defects; see 180500).

In 2 generations of a family, De Hauwere et al. (1973) described a syndrome of iris hypoplasia, ocular hypertelorism, deafness, and psychomotor retardation. Affected persons were of short stature. The anterior segment abnormality was typical of Rieger anomaly (hypoplasia of iris, adhesion between iris and posterior surface of cornea and pear-shaped pupils). Hypotonia and lax joints with dislocation of the hips were consistent features. Deafness was mild. Pneumoencephalograms showed dilated cerebral ventricles. Hypertelorism and strabismus were marked. No male-to-male transmission was observed. De Hauwere et al. (1973) suggested that the patient described by Von Noorden and Baller (1963) had the same disorder.

Chitty et al. (1991) described a mother and her 2 children, a daughter and son, who, in addition to having Axenfeld-Rieger eye anomalies (prominent Schwalbe ring, hypoplasia of the anterior iris stroma, and iris processes), had absence of some of the eye muscles, proptosis and hypertelorism, communicating hydrocephalus, prominent forehead with flat midface, and skeletal changes such as flat femoral epiphyses. The mother and her children were apparently of normal intelligence.

Lowry et al. (2007) described a 48-year-old woman with Axenfeld-Rieger anomaly, hydrocephalus, hearing loss, and normal intelligence. She also had short stature, telecanthus, hypertelorism, and hyperlaxity of joints leading to severe joint pain. Her 3 sisters and 2 brothers had no congenital disorders. Lowry et al. (2007) stated that their patient fulfilled the criteria proposed by De Hauwere et al. (1973) except that she had no mental retardation. An analysis of the PITX2 (601542), BARX1 (603260), and FOXC1 (601090) genes revealed no mutations.