Dear Prof. Lorenz,
Thank you for your detailed commentary on our recent review, “RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene
Neparvovec”. We are delighted that our review resonated with your ongoing work and
that you took the time to share your insights and additional perspectives on this
important topic.
We fully agree with your emphasis on the importance of recognizing the early phenotypic
manifestations of RPE65-IRD, which can indeed be pivotal for timely diagnosis and subsequent therapeutic
intervention. We appreciate your reference to the subtle retinal features observed
in young patients. These observations underscore the need for vigilance during fundoscopy
in identifying these hallmark changes, even before ancillary imaging studies are conducted.
Your mention of historical and recent data, including the fundus images and longitudinal
outcomes, provides invaluable context for understanding the natural history of RPE65-IRD. You note that we have described the clinical findings in the according figure
2 as normal, which must have been a misunderstanding, as the figure represents a mild
phenotype, being described as such both in the text and in the figure legend.
Finally, we fully agree with your conclusion regarding the need for enhanced imaging
modalities, the use of proper biomarkers, and comprehensive natural history data to
better characterize the spectrum of RPE65-IRD phenotypes. Such efforts will undoubtedly contribute to optimizing diagnostic
accuracy, patient selection, and therapeutic timing.
Thank you again for your engagement with our work and for sharing your valuable expertise.
We are confident that ongoing dialogue and collaboration within the community will
continue to advance the understanding and management of RPE65-IRD.
With kind regards,
Katarina Stingl
Claudia Priglinger
Philipp Herrmann
