Retinal abnormalities in many inherited renal diseases is common. From CHARGE syndrome, Tuberous Sclerosis, Alports syndrome, LCAT deficiency, to Fabry's disease, VHL Syndrome and Amyloidosis are many diseases that this is noted.
Why is that is the question?
The 4 main reasons are:
1. Kidney and Retina develop at the same embryonic stages
2. The Glomerular filtration barrier is very similar to the design of the retinochoroidal junction.
3. Both glomurelus and chorioretina are large capillary beds
4. Both Podocytes( renal epithelial cells) and Retinal epithelial cells are similar in function and depend on cilia for their functions
A nice review is available on this topic in recent issue of JASN August 2011( has a detailed review of all the diseases and mechanisms)
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