RPE65 gene mutation prevents development of autofluorescence in retinal pigment epithelial phagosomes

Polarized Secretion of PEDF from Human Embryonic Stem Cell–Derived RPE Promotes Retinal Progenitor Cell Survival

“…28,[43][44][45][46] To determine whether the RPE cells derived from hES cells can express these RPE-specific or related genes, we used RT-PCR, immunofluorescent staining and Western blot analysis to evaluate the expression of these genes in cultured hES-RPE cells. By RT-PCR, Western blot, and immunofluorescent staining, RPE65 was expressed in polarized (differentiated) hES-RPE cultures, but not in nonpolarized (proliferating stage) hES-RPE cultures (Fig.…”

Reductions in Serum Vitamin A Arrest Accumulation of Toxic Retinal Fluorophores: A Potential Therapy for Treatment of Lipofuscin-Based Retinal Diseases

“…While lipofuscin debris was observed to accumulate, there were no fluorescent species present within the debris. 48 Thus, retinaldehyde per se appears to be the requisite substrate for the formation of all lipofuscin fluorophores. It follows that therapies directed at reducing retinaldehyde content are likely to have a benefical effect on all diseases characterized by accumulation of lipofuscin fluorophores.…”

Fundus autofluorescence in children and teenagers with hereditary retinal diseases

“…An important fluorescent component of lipofuscin is A2E, which is derived from N-retinylidene-phosphatidyl-ethanolamine chemically modified upon digestion of phagocytosed photoreceptor outer segments [14][15][16][17]23]. In healthy individuals it accumulates with age within the lysosomal compartment [16,36].…”