Focused On: The Genetics of Eye Disease


John Grigg

John Grigg

Robyn Jamieson

Robyn Jamieson


Group Leaders: Robyn Jamieson, John Grigg

Genetic eye disorders contribute to blindness and partial-sightedness for many with visual disability in our community.

Our research studies in genetic eye disease focus on ocular conditions including cataracts (clouding of the lens), glaucoma (raised pressure in the eye and abnormal optic nerves), retinal dystrophies (disorders affecting the back of the eye) and microphthalmia or anophthalmia (small or absent eye).

All of these conditions can lead to visual disability or blindness and in all there are few or limited treatment options.

The work being undertaken by the research team at Save Sight Institute aims to identify which disease genes are important in these conditions, and the functions of the proteins they encode. By understanding the detailed protein functions, we will then be able to develop better treatments to vastly improve the management of these conditions.

As a part of the research programme we are studying patients and families who have eye conditions, using high resolution genomic techniques to identify the underlying disease genes.

We are also using mouse models to understand the detail of the functions of disease genes which cause abnormalities of eye development.

We have collaborative links with the Children’s Medical Research Institute, the Western Sydney Genetics Programme and the Discipline of Paediatrics and Child Health at the Children’s Hospital at Westmead .

Specific projects currently underway include:

- The genetic basis of microphthalmia and anophthalmia;
- High-resolution genomic studies in cataract, glaucoma, anterior segment dysgenesis and retinal dystrophies;
- Genetics of macular dystrophy.