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What are the symptoms of Refsum disease?

The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. Other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination ( ataxia ); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis).

Can refrefsum cause prominent corneal nerves?

Refsum disease (see above) is one cause of ichthyosis that is associated with prominent corneal nerves. In other types of ichthyosis, corneal nerves may occasionally become prominent. In a study by Jay et al., one of 62 patients were found to have “unusually prominent” corneal nerves.16

What causes refrefsum disease?

Refsum disease can result from mutations in the PHYH gene or the PEX7 gene and is inherited in an autosomal recessive pattern. [1] This table lists symptoms that people with this disease may have.

Is Refsum disease recessive or dominant?

Refsum disease. Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues.


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