Shimizu Satoko, Mori Naoki, Kishi Mari, Sugata Hirohisa, Tsuda Akiko, Kubota Nobue
Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan.
Jpn J Ophthalmol. 2002 May-Jun;46(3):336-40. doi: 10.1016/s0021-5155(02)00484-7.
To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family.
Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations.
The proband and his sons had a heterozygous mutation of the OPA1 gene in the third nucleotide of intron 12 (IVS12+3A-->T). Clinically, each patient had reduced visual acuity (onset within the first 6 years of life) and optic nerve pallor. The proband showed bilateral central scotomas and generalized dyschroatopsia. This is the first report of OPA1 gene mutation in Japanese patients with familial optic atrophy.
A mutation of the OPA1 gene was detected in a Japanese family with OPA1, which follows the same pattern as reported in Western countries. It is suggested that mutations of the OPA1 gene contribute to the development of optic nerve atrophy regardless of ethnic groups. Screening for the OPA1 gene mutation will be useful for diagnosis of OPA1 in Japanese patients.
报告一个患有1型视神经萎缩（OPA1）的日本家族中OPA1基因的一种新突变，并描述该家族的临床特征。
对先证者及其两个患病儿子进行了标准眼科检查。测定OPA1基因所有外显子和剪接位点的DNA序列以检测突变。
先证者及其儿子在第12内含子的第三个核苷酸处（IVS12 + 3A→T）存在OPA1基因的杂合突变。临床上，每位患者视力下降（发病于生命的前6年内）且视神经苍白。先证者表现为双侧中心暗点和广泛性色觉障碍。这是日本家族性视神经萎缩患者中OPA1基因突变的首次报告。
在一个患有OPA1的日本家族中检测到OPA1基因突变，其模式与西方国家报道的相同。提示OPA1基因突变无论种族如何都对视神经萎缩的发生起作用。筛查OPA1基因突变将有助于日本患者OPA1的诊断。
