Kohnen S, Hammerstein W
Kreiskrankenhaus Lüdenscheid.
Ophthalmologe. 1993 Oct;90(5):519-21.
We report the case of a pair of twins with the ophthalmological and functional findings of Refsum syndrome. The twins were monozygotic twin brothers whose ophthalmological symptoms were noticed when they were in their forties. The diagnosis in the first brother led to a search for findings in the second. It was possible to attribute the non-specific subjective complaints to this as yet unknown syndrome. No causal therapy can be offered the patients. However, knowledge of the biochemical basis of the disease makes it possible to treat it by means of diet. In patients with retinopathia pigmentosa, an attempt should be made to identify Refsum syndrome if neurological symptoms are found in addition.
我们报告了一对患有Refsum综合征眼科及功能表现的双胞胎病例。这对双胞胎是同卵双胞胎兄弟，他们在四十多岁时被发现有眼科症状。对第一个兄弟的诊断促使对第二个兄弟进行检查，从而得以将非特异性主观症状归因于这种尚不为人知的综合征。目前无法为患者提供病因治疗。然而，了解该疾病的生化基础后，可以通过饮食进行治疗。对于患有色素性视网膜炎的患者，如果还发现有神经症状，应尝试诊断是否为Refsum综合征。
