New method detects rare eye disease and treatments

Researchers found that visualisation of disruption of the retinal pigment epithelium (RPE) layer of cells can show risks of the choroideremia disease and impact future gene therapy trials.

A study by the National Eye Institute (NEI) used adaptive optics with indocyanine green dye to view live cells, including light-sensing photoreceptors, RPE cells, and choroidal blood vessels, and found that the degenerative disease, choroideremia, caused enlarged RPE cells in both males and females.

This suggested that the RPE blood barrier function may be altered in choroideremia, similar to the changes seen in age-related macular degeneration, and enabled a signpost for monitoring the risk and progression of diseases in patients.