Project Aim

Leber congenital amaurosis (LCA) is a severe form of retinal degeneration with onset usually in infancy. This project aims to understand the genetic causes of LCA by studying the DNA of people with the condition. By identifying harmful changes in the DNA, we aim to explain why people have LCA and develop better ways to diagnose the condition based on genetic information.

Project Results and Impact

The Eye Genetics Research Group is using advanced sequencing technology called next-generation sequencing (NGS) to find new genes and genetic changes that cause eye diseases that can lead to blindness in humans. They also use models to understand how these diseases develop and to test new treatments to improve vision.

In this project, the researchers used NGS to study the protein-coding parts of the DNA in patients and families affected by Leber Congenital Amaurosis (LCA), a condition that affects vision from birth. They found both known and new genetic changes in LCA-related genes in about 60% of the patients and families they studied. This is consistent with what other researchers have found using similar methods. The researchers are now investigating some new genes that could be responsible for LCA.

Because of the success of this project, the researchers have created a process using NGS that can be used to study more patients with LCA. This will help in diagnosing the condition more accurately and could lead to new treatments to improve vision for people with LCA.

Chief investigator:
Associate Professor Robyn Jamieson
Eye Genetics Research Group, Sydney


Associate Professor John Grigg, Save Sight Institute, University of Sydney

Grant awarded:
$40,000 (2014)

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