Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell anosmia, and a variety of other signs and symptoms. Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid. Welcome to the adult refsum s disease website it contains. About 60 cases of refsum disease rd have been reported worldwide.
Symptoms may include a degenerative nerve disease peripheral neuropathy, failure of muscle coordination ataxia, retinitis pigmentosa a progressive vision disorder, and bone and skin changes. This is a descriptive observational study with an analytical component where all the patients with colorectal cancer diagnosed by histopathology that concurred to. The vision loss associated with refsum disease is caused by an eye disorder called retinitis pigmentosa. Clinicians will also find much of interest here, especially the section on diet for treatment of adult refsum s disease. Seitelberger distro a neuroaxonal amiloidosis hereditaria numerosos por ria mld aldamn. The present study was carried out to establishes the prevalence of this syndrome and compare its clinical characteristics and treatment with patients having sporadic colorectal cancer. It is one of several disorders named after norwegian neurologist sigvald bernhard refsum 19071991. Refsum disease is characterized by anosmia and earlyonset retinitis. Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. Information for patients, their families, and helpers what adult refsum s disease is, and what to do if you are affected by it.
This disorder affects the retina, the lightsensitive layer at the back of the eye. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Enable javascript to view the expandcollapse boxes. Vision loss occurs as the lightsensing cells of the retina gradually deteriorate. Information for clinicians more detailed and specialist material.
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