Refsums sjukdom Svenska RP-f reningen 1. A clinical description of Refsum Syndrome. As a result, high levels of phytanic acid accumulate in blood and tissue. It is thought that disorders associated with this disease result from harmful levels of phytanic acid.
Phytanic acid is found in meat, fish, and dairy products.
The body also converts phytol, a substance found in green leafy vegetables, to phytanic acid. Refsum disease is usually diagnosed during childhood or young adulthood when vision problems due to RP become apparent. Progressive vision loss from RP begins when harmful levels of phytanic acid collect beneath the retina. The retina is essential to vision as it converts light into electrical impulses and then transfers these impulses to the brain via the optic nerve. Night blindness makes vision difficult in dark or dimly lit places.