Refsum disease: The presentation and ophthalmic aspects of Refsum disease in a series of 23 patients

Abstract

SUMMARYRefsum disease (heredopathia atactica polyneuritifor mis) was first described in 1946 and is a rare recessively Refsum's disease, also known as heredopathia atactic a polyneuritiformis is a rare cause of retinitis pigmentosa. It was first described by Sigvald Refsum in Norway in 1945.1 By 1984 there were at least 70 cases known2 and since then there have been over 30 more cases described. The disease is inherited as an autosomal recessive condition. Refsum described four cardinal manifestations: retinitis pigmen tosa, a chronic polyneuropathy, ataxia with other cerebellar signs, and a raised CSF protein in the absence of an increased cell count. 2 Additional features include anosmia, cataract, miosed unreactive pupils, deafness, ichthyosis, skeletal abnormalities and cardiac arrhythmias which have been postulated to be the cause of sudden death in acute exacerbations.3A In 1963 Klenk and Kahlke reported an association with raised blood serum phytanic acid

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

“…One other case description of infantile-onset ARD syndrome exists but describes a more severe clinical but similar biochemical phenotype in a male child (Herbert and Clayton 1994). Her delayed diagnosis is not unusual in cases of ARD where the delay in diagnosis is typically 11 years (Claridge et al 1992;Ruther 2005). This is the first case report describing the birth of a healthy baby despite very high phytanic acid levels in the mother.…”

Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy

“…The main abnormality found in the other patients was miosis. 28,29 The relative failure of the pupils of Refsum's disesase patients to dilate to phenylephrine suggests that in this condition, miosis is not due to an autonomic defect, but it is more likely due to a structural abnormality within the iris. This is consistent with previous pathological and electron microscopy examinations of the irides which have shown high concentrations of the phytanic acid lipid deposits in both sphincter and dilator muscles.…”

Smell testing: an additional tool for identification of adult Refsum's disease

“…Patients with previously diagnosed ARD, identified by the presence of retinitis pigmentosa, 9 neurophysiological or radiological signs of ARD, 10 and raised plasma phytanic acid (reference limit ,30 mmol/l) prior to initiation of dietary therapy, were evaluated.…”