Boissonnot M, Robert M F, Gilbert-Dussardier B, Dighiero P
Service d'Ophtalmologie, Centre Hospitalier Universitaire, Poitiers, France.
J Fr Ophtalmol. 2007 Jan;30(1):e2. doi: 10.1016/s0181-5512(07)89555-6.
Oguchi disease, originally described in Japanese people, is a rare form of stationary night blindness in patients with normal acuity.
We report the case of an 8-year-old girl who presented with an abnormal terrified behavior in the dark. Thorough questioning revealed hemeralopia. Her clinical examination (visual acuity, Goldmann visual field, and color vision) were normal. The fundus examination showed golden-brown color, grayish, almost greenish yellow discoloration in the peripheral area with no osteoclast. This abnormality disappeared after prolonged dark adaptation. The electroretinogram showed a reduced b wave amplitude under scotopic conditions. Her parents were cousins.
This diagnosis should be suggested when hemeralopia is associated with typical fundus aspect resolving after dark adaptation (so called Mizuo-Nakamura phenomenon). The long-term prognosis in these patients is good in the absence of clinical progression. This is a genetic autosomal recessive disease caused by mutations in the gene coding for arrestin located in 2q37.1.
小口病最初在日本人中被描述，是一种视力正常患者中罕见的静止性夜盲症形式。
我们报告了一名8岁女孩的病例，她在黑暗中表现出异常惊恐的行为。详细询问发现有夜盲症。她的临床检查（视力、戈德曼视野和色觉）均正常。眼底检查显示周边区域呈金棕色、灰色，几乎是绿黄色变色，无破骨细胞。长时间暗适应后这种异常消失。视网膜电图显示在暗视条件下b波振幅降低。她的父母是近亲。
当夜盲症与暗适应后典型的眼底表现消失（所谓的水尾-中村现象）相关时，应考虑该诊断。这些患者在无临床进展的情况下长期预后良好。这是一种由位于2q37.1的视 arrestin 编码基因突变引起的常染色体隐性遗传病。
