We observed abnormal RPE/Bruch's membrane complex and EZ band externally to the NIR-AF signal area.<b>Conclusions</b>: NIR-AF imaging confirms an early RPE involvement allowing us to identify and to quantify the RPE pigment loss in choroideremia.
The results confirm that AAV-mediated delivery of the REP1-encoding gene can rescue defects in CHM iPSC-RPE regardless of the type of disease-causing mutation.
Phase I clinical trials to cure LCA and choroideremia demonstrated that adeno-associated viral vectors containing RPE genes and photoreceptors respectively, could be successfully administered to inherited retinopathy patients.
Less common retinal findings included retinal detachment, abnormal retinal pigmentation, progressive atrophy of the RPE simulating choroideremia and lattice degeneration.