Claridge K G, Gibberd F B, Sidey M C
Department of Neurology, Westminster Hospital, London.
Eye (Lond). 1992;6 ( Pt 4):371-5. doi: 10.1038/eye.1992.76.
Refsum disease (heredopathia atactica polyneuritiformis) was first described in 1946 and is a rare recessively inherited metabolic disease affecting phytanic acid metabolism. It causes retinitis pigmentosa, cataracts, a chronic polyneuropathy, cerebellar ataxia and cardiac arrhythmias amongst other clinical signs. By limiting dietary intake, plasma phytanic acid levels fall with an improvement in the neurological signs. The onset of retinitis pigmentosa usually precedes biochemical diagnosis by several years by which time the retinal damage is severe. A series of 23 patients have been reviewed. There was an average delay of 11 years (range 1-28 years) between the patient presenting to the ophthalmologist and being diagnosed as having Refsum disease. Although serial examinations have failed to show a definite change in the course of visual deterioration with treatment, early diagnosis is important to prevent the development of neurological disease.
雷夫叙姆病（遗传性共济失调性多神经炎）于1946年首次被描述，是一种罕见的隐性遗传代谢疾病，影响植烷酸代谢。它会导致色素性视网膜炎、白内障、慢性多发性神经病、小脑共济失调和心律失常等临床症状。通过限制饮食摄入，血浆植烷酸水平会下降，神经症状也会有所改善。色素性视网膜炎通常在生化诊断前数年就已出现，此时视网膜损伤已经很严重。对23例患者进行了回顾性研究。从患者就诊于眼科医生到被诊断为患有雷夫叙姆病，平均延迟了11年（范围为1 - 28年）。尽管系列检查未能显示出治疗后视力恶化过程有明确变化，但早期诊断对于预防神经疾病的发展很重要。
