Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome.

Abstract

SUMMARY A family extending over 4 generations showed iridogoniodysgenesis accompanied by somatic malformations inherited in an autosomal dominant fashion. Iridogoniodysgenesis was present in 10 members, of whom 5 had established glaucoma; 4 youthful members are likely to develop glaucoma. Somatic malformations were present in 5 members from the 3rd and 4th generations who did not manifest iridogoniodysgenesis. A possible polygenic basis is discusssed, though the variable expression of an autosomal dominant inheritance is still the more likely explanation.The contribution of goniodysgenesis to the pathogenesis of hereditary juvenile glaucoma has been described. I2 The tern embraces a maldevelopment of the trabecular meshwork, hypoplasia of the anterior stromal layer of the iris, and anomaly of the peripheral cornea-Rieger's ocular malformation. For those patients in whom the iris hypoplasia is marked and comeal involvement absent iridogoniodysgenesis is the preferred descriptive term.3 Families with hereditary juvenile glaucoma are known in whom a dominantly inherited iridogoniodysgenesis is both prominent and a significant indicator of the accompanying glaucoma,47 but in none have somatic malformations been reported. We report a family over 4 generations showing marked iris hypoplasia present from birth accompanied by glaucoma in early adulthood, associated with somatic malformations of an autosomal dominant inheritance. Materials aind methodsAccess to the family was obtained via III ,0and siblings (Fig. 1). He had undergone bilateral thermal sclerostomy for the control of glaucoma at the age of 25 years and was seeking advice on behalf of his children.He was aware of a connection between iris colour and Correspondence to Dr 1. A.

ARTICLE: Axenfeld-Rieger Syndrome (ARS): A review and case report

“…Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant condition characterized by ocular, craniofacial, dental, and periumbilical abnormalities 1–5 . It is a combination of Rieger's ocular anomaly and Axenfeld syndrome, both defined as anterior chamber cleavage syndromes, 3 together with nonocular abnormalities 3–11 . The incidence of ARS is estimated at 1 in 200,000 2,3 .…”

Concordant familial segregation of atrial septal defect and Axenfeld–Rieger anomaly in father and son

“…Syndromic features can occur in association with these ocular anomalies in the setting of the so-called 'Axenfeld-Rieger syndrome' (Table 1). Extraocular malformations include facial anomalies, small or missing teeth, redundant periumbilical skin, sensorineural hearing loss, CHD and skeletal limb anomalies (Feingold et al, 1969;Fitch and Kaback, 1978;Crisholm and Chudley, 1983). The phenotype has generally a variable interfamilial and intrafamilial expressivity, and incomplete penetrance can be observed.…”

Nadir görülen Axenfeld-Rieger sendromu: olgu bildirimi

“…7,17,19,25 Central incisors, lateral incisors and second premolars are frequently microdont or missing. 7,26 In the case presented here, severe hypodontia, with the absence of canines, central and lateral incisors and premolars, a peg-shaped lateral incisor and root abnormalities were observed.…”