Cone photoreceptor development and cell death mechanisms

Project Aim

Achromatopsia (ACHM), also referred to as Rod Monochromacy, is a devastating early-onset genetic disease estimated to affect 1:30,000-50,000 people worldwide. ACHM affects the cone cells in the eyes, which are responsible for colour vision.

Currently, scientists have discovered that mutations in five specific genes can cause Achromatopsia. They have created mouse models that mimic the disease for four of these genes. The genes that are affected in Achromatopsia are important for the functioning of cone cells, which are responsible for colour vision. However, in the mouse retina, cone cells make up only a small portion (about 3%) of all the photoreceptor cells. This has made it challenging to study these cone cells separately from other types of cells in the retina. To understand how ACHM works, scientists created special mice that have fluorescent cone cells. This makes it easier to study these cells and how they function.

The overall objective of this project was to define the factors cause cone cells to die in ACHM and which specific process leads to their death. We also wanted to investigate if there is a connection between problems in cone cell movement during development and their death later on. By using these special mice, scientists hoped to learn more about how these genetic mutations affect cone cell movement, development, and survival.

Project Results and Impact

The Retina Australia grant was fundamental in enabling us to import and establish mouse models lines to study specific cone degeneration mechanisms. We are well into the characterisation fo these models and should shortly be able to start molecular and genetic analysis of cone death pathways of isolated pure cone cell populations. The establishment of these novel lines has already provided the opportunity for national and international collaborations and part of ARC and NHMRC grant applications currently under consideration.

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