Familial transmission risk of infantile glaucoma in Australia

Abstract

Purpose: Primary infantile glaucoma (PIG) is predominantly inherited as a recessive disease, whereas anterior segment dysgenesis (ASD) is usually dominantly inherited. The purpose of this study was to determine the likelihood of a person who has infantile glaucoma to produce a child who also manifests the disease. Methods: A retrospective cross-sectional design was utilized. The pedigrees of probands from south-eastern Australia diagnosed with infantile glaucoma since 1980 were reviewed. Cases were subdivided into two groups according to the presence or absence of ASD. Exclusion criteria included incomplete pedigree phenotype information or aphakic glaucoma following congenital cataract surg..