Overview of IRD

IRDs are a group of rare diseases associated with an inherited gene mutation affecting the retina that involve deterioration of vision and result in eventual blindness.

Different forms of IRD differ in onset, severity, and progression of the diseases depending on the type of mutation and the cells affected.

IRDs are characterised by the progressive deterioration of rods and cones.

There are currently over 260 genes that have been identified as being associated with IRD.

A quick guide to the retina

Retina:
The back surface of the eye made up of two layers, full of cells that detect light (photoreceptor cells) and send signals to the brain to create images. Contains two types of photoreceptor cells: rods and cones

Rod cells:
Mostly found around the edge of the retina, these cells are the ones that work in dim light and that help us see things that aren’t straight ahead

Cone cells:
Concentrated in the centre of the retina and mostly involved in seeing colour and give us detailed vision