Gaillard M-C, Matthieu J-M, Borruat F-X
Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland.
Klin Monbl Augenheilkd. 2008 May;225(5):491-4. doi: 10.1055/s-2008-1027310.
Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities.
Three consecutive patients with Cblc disease were examined. Investigations included slit lamp and fundus examination and full-field ERG.
A maculopathy associated with both photopic and scotopic abnormal ERG was present in two cases and a salt and pepper retinopathy with abnormal photopic ERG was detected in the third patient.
Despite early treatment and regular metabolic controls, all our patients exhibited both retinal and ERG abnormalities. There was no correlation between funduscopic appearance and the type of photoreceptor dysfunction. A literature review disclosed a retinopathy in 29 / 70 cases with cblC disease, with an abnormal ERG in 8 of the 12 tested cases, most with retinopathy. Retinal dysfunction in cblC disease may be more frequent than previously thought, and can involve cones only or both rods and cones. We recommend a formal ocular examination with full-field ERG in patients with Cblc disease.
钴胺素C型甲基丙二酸尿症伴高胱氨酸尿症（cblC病）是一种罕见的遗传性钴胺素代谢先天性缺陷，其特征为神经、血液和眼科异常。
对连续3例Cblc病患者进行了检查。检查包括裂隙灯和眼底检查以及全视野视网膜电图（ERG）。
2例患者存在与明视和暗视异常ERG相关的黄斑病变，第3例患者检测到椒盐样视网膜病变伴明视ERG异常。
尽管进行了早期治疗和定期代谢控制，我们所有患者均表现出视网膜和ERG异常。眼底表现与光感受器功能障碍类型之间无相关性。文献综述显示，70例cblC病患者中有29例存在视网膜病变，12例接受检测的病例中有8例ERG异常，其中大多数伴有视网膜病变。cblC病中的视网膜功能障碍可能比以前认为的更为常见，并且可能仅累及视锥细胞或同时累及视杆细胞和视锥细胞。我们建议对cblC病患者进行全面的眼科检查及全视野ERG检查。
