Keyword Analysis & Research: refsum disease eye


Keyword Analysis


Keyword Research: People who searched refsum disease eye also searched

Frequently Asked Questions

What is Refsum disease?

Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa.

What causes vision loss with Refsum disease?

The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye.

How is refrefsum disease diagnosed?

Refsum disease can be diagnosed based on the finding of highly raised phytanic acid in a blood sample. Levels of pristanic acid, the next step in the pathway, are usually low.

What are the treatment options for Refsum disease?

There are currently two available treatment regimens for Refsum Disease. The first treatment is a strict diet low in phytanic acid and is used for long-term management. Dietary restriction of phytanic acid intake helps lessen or resolve ichthyosis, sensory neuropathy, and ataxia.


Search Results related to refsum disease eye on Search Engine