CTSD and age-related macular degeneration: It was previously reported that CFH Y402H-AMD-patient-specific RPE cells have a significant increase in the number of swollen lysosome-like vesicles with fragile membranes, Cathepsin D leakage into drusen-like deposits, reduced lysosomal function, diminished autophagy, and elevated mTORC1 signaling20,29.