What effect does the genetic fault behind Stargardt have on light-detector cells?

Overview

Stargardt macular dystrophy is an inherited eye condition that affects the macula – the central part of the light-sensitive layer of the eye (the retina).

We already know that faults in the gene known as ABCA4 cause Stargardt. But errors in the same gene can lead to other inherited retinal conditions too, such as retinitis pigmentosa and cone-rod dystrophy. Which symptoms people have and how fast sight loss happens seems to depend on the type of genetic fault people have.

In this project the research team is taking detailed images of the retina in people with faults in the ABCA4 gene using a newly-developed high-resolution device. The aim is partly to fine tune the image-processing software and partly to test how well the device can photograph different areas of the retina.

High-res imaging will mean researchers and clinicians can find out where and how bad the damage is to cells in the retina depending on the particular genetic fault in ABCA4. Crucially, it will also mean they can see how many working cells are left. In the long run this will mean the equipment can help monitor people’s response to treatment and provide better information for people about their specific condition.