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refsum disease
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- Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and ... signs and symptoms.The vision loss associated with Refsum disease is caused by an eye disorder called retinitis ...
- ... several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). Retinitis ...
- ... adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a single condition ...