Refsum disease has also been called Refsum-Thi?baut disease and Refsum-Thi?baut-Klenk-Kahlke disease

Refsum's disease affects the nervous system, eyes, bones, and skin.

One of the earliest symptoms in Refsum disease that the patients develop is night blindness.

Refsum's disease has a recessive pattern of inheritance and affects populations from Northern Europe, particularly Scandinavians most frequently.

The Norwegian neurologist , Sigvald Refsum first described the disorder in 1946.