Free
cholesterol is the predominant form of
cholesterol in the neural retina. The vertebrate neural retina exhibits its own capacity to synthesize
cholesterol and meets its demand also by taking it from the circulation. Defects in
cholesterol synthesis and trafficking in the neural retina has detrimental consequences on its structure and function, highlighting the crucial importance of maintaining
cholesterol homeostasis in the retina. Our purpose was to give a review on the functioning of the retina, the role of
cholesterol and
cholesterol metabolism therein, with special emphasis on cholesterol-24S-hydroxylase (
CYP46A1). Similar to the brain, the retina expresses cholesterol-24S-hydroxylase (
CYP46A1) and is enriched in its metabolic product,
24S-hydroxycholesterol. We recently published that one single nucleotide polymorphism in
CYP46A1 gene, designated as rs754203, was a risk factor for
glaucoma.
Glaucoma is the second leading cause of
blindness worldwide, affecting more than 60 million people.
Glaucoma is characterized by the loss of retinal ganglion cells, which show high
CYP46A1 expression. These data suggest the potential involvement of
CYP46A1 and
24S-hydroxycholesterol in the pathophysiology of
glaucoma.