Research Activities

The Chief Investigators of the ToGER CRE are currently involved in numerous research projects to identify new genes associated with blinding disease. With an already impressive history of research in genetic eye disease, several significant population-based eye studies having been initiated by members of the group. In 1993 the Glaucoma Inheritance Study in Tasmania commenced, creating one of the largest glaucoma biobanks in the world, with over 5,000 DNA samples and clinical material from familial and sporadic cases of glaucoma. This study helped to discover the myocilin gene and its association with glaucoma.

A further area of work has been the Twins Eye Study in Tasmania and Brisbane, with over 1000 pairs of twins and 200 siblings extensively phenotyped for ocular biometry. Analyses will provide insight into the genetics of traits such as central corneal thickness, intraocular pressure and optic disc cup size. More recently, the Norfolk Island Eye Study was established, examining 800 mixed race descendants of the Bounty Mutineers of Pitcairn Island and their Tahitian wives to similarly investigate the genetic basis for various eye traits.

Other genetic eye disorders for which the group have been involved in the identification of new genes include: Nance Horan Syndrome; congenital cataract; hereditary hyperferritinemia cataract syndrome; Leber Hereditary Optic Neuropathy (LHON); Autosomal Dominant Optic Atrophy (ADOA); Bests disease; familial exudative vitreoretinopathy; Nail-Patella glaucoma; retinitis pigmentosa; X-linked megalocornea and keratoconus. Information about some of these findings can be found on our publications page.

Additionally, the Chief and Associate Investigators actively collaborate and are involved in several other major research projects that facilitate genetic eye disease research: The Brisbane Adolescent Twin Study (Prof Nick Martin and Dr Grant Montgomery - Queensland Institute of Medical Research), The Blue Mountains Eye Study (Prof Paul Mitchell and Prof Jie-Jin Wang - University of Sydney), The Norfolk Island Health Study (Prof Lyn Griffiths - Griffith University), The Raine Study (Prof Craig Pennell - University of Western Australia), and The Busselton Healthy Aging Study (Prof Alan James - University of Western Australia).