We thank Giuseppe Querques
1 for his comments on our recent article on Sorsby fundus dystrophy (SFD).
2 We fully agree with his observation that the drusen-like deposits at the fundus of some patients shown in our study resemble reticular pseudodrusen (RPD). We also endorse his interesting pathophysiologic considerations.
When reviewing the literature on SFD, we noticed a lack of detailed analysis of the frequently reported drusen-like deposits. Hence, we used a multimodal imaging approach and confirmed that RPD are a characteristic finding in SFD patients, at least in earlier disease stages. However, peripheral pseudodrusen and soft drusen also occur in SFD patients. An in depth description of these findings would have gone far beyond the scope of our recent article in
IOVS. However, we recently have published a focused and detailed paper on RPD in SFD,
3 which essentially is in line with the insightful observations and interpretations brought forward by Dr Querques.
Besides their association with SFD, RPD were found frequently in two other monogenetic diseases: Pseudoxanthoma elasticum
4 and late onset retinal degeneration (LORD) (Cukras CA,
IOVS 2015;56:ARVO E-Abstract 2379-C0029). All three diseases share a common pathophysiologic background with pathology at the level of Bruch's membrane and the retinal pigment epithelium. This indeed indicates that RPD could (at least partially) be the result of dysfunction of the choroid–BM–RPE complex.