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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.