Optic atrophy in association with cobalamin C (cblC) disease.
Optic atrophy in association with cobalamin C (cblC) disease.
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DOI：
10.1076/1381-6810(200009)21:3;1-z;ft151
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发表时间：
2000-09-01
影响因子：
1.2
通讯作者：
Wraith, J E
中科院分区：
文献类型：
--
作者：
Patton, N;Beatty, S;Wraith, J E
目的：报道视神经萎缩与钴胺素C （cblC）疾病的关系。方法：对3例患者进行描述性病例报告，其中2例为兄弟姐妹。结果：所有3例cblC患者均表现为双侧视神经萎缩和视力下降。在这两个兄弟姐妹中，妹妹从出生起就服用了钴胺素补充剂，母亲在出生前就服用了钴胺素补充剂。结论：这3例病例证实了视神经萎缩与cblC疾病的相关性。用钴胺素补充剂进行早期治疗似乎不能预防视神经萎缩的发展。
PURPOSE: To report the association of optic atrophy with cobalamin C (cblC) disease.METHODS: Descriptive case reports on three patients, two of whom were siblings.RESULTS: All three patients with cblC disease exhibited bilateral optic atrophy with decreased visual acuity. Of the two siblings, the younger sister had received cobalamin supplements from birth and the mother had been given cobalamin supplements prenatally.CONCLUSION: These three cases confirm the association of optic atrophy with cblC disease. Early treatment with cobalamin supplements does not appear to prevent the development of optic atrophy.