Characterisation of the smooth zone of retinal autofluorescence in the macula of choroideremia patients

Research summary

In a recently completed clinical trial funded by the NIHR, evaluating the effects of gene therapy in patients with early stage choroideremia, subsequent analysis the patients with a 'smooth zone' of central retinal autofluorescence indicated that the degeneration might been slowed. It appears that as the disease progresses, the smooth zone becomes mottled and then disappears completely with vision loss. We therefore believe that smooth zone analysis will be very helpful in a follow-on clinical trial. Before doing this, however, we first need to analyse patients with the smooth zone and study their overlying retinal function and anatomy. This study will help further understanding and characterisation of the smooth zone of retinal autofluorescence in choroideremia patients. To the best of our knowledge, there has been no cross-sectional analysis of the prevalence of the smooth zone and its size at different ages across different populations, nor has there been a prospective study analysing the rate of loss of the smooth zone. The outcomes of this research project could therefore aid in patient selection, help in predicting response to gene therapy treatments by correlating gene therapy outcomes with baseline parameters in the smooth zone, and serve as a potentially novel endpoint for choroideremia gene therapy trials.

Principal Investigator

Prof Robert MacLaren

Contact us

Email: ERGO@ouh.nhs.uk

IRAS number

336115